Porfirias são um grupo de oito doenças metabólicas hereditárias, caracterizadas por sintomas neuroviscerais (que afetam o sistema nervoso e órgãos internos) que aparecem de vez em quando, lesões na pele, ou pela combinação dos dois.
Introdução
O que você precisa saber de cara
Porfirias são um grupo de oito doenças metabólicas hereditárias, caracterizadas por sintomas neuroviscerais (que afetam o sistema nervoso e órgãos internos) que aparecem de vez em quando, lesões na pele, ou pela combinação dos dois.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 87 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 205 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
11 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX
Mitochondrion inner membrane
Variegate porphyria
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance.
Transcriptional activator or repressor which serves as a general switch factor for erythroid development (PubMed:35030251). It binds to DNA sites with the consensus sequence 5'-[AT]GATA[AG]-3' within regulatory regions of globin genes and of other genes expressed in erythroid cells. Activates the transcription of genes involved in erythroid differentiation of K562 erythroleukemia cells, including HBB, HBG1/2, ALAS2 and HMBS (PubMed:24245781)
Nucleus
X-linked dyserythropoietic anemia and thrombocytopenia
Disorder characterized by erythrocytes with abnormal size and shape, and paucity of platelets in peripheral blood. The bone marrow contains abundant and abnormally small megakaryocytes.
Binds to transferrin receptor (TFR) and reduces its affinity for iron-loaded transferrin
Cell membrane
Hemochromatosis 1
A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.
Catalyzes an early step in the biosynthesis of tetrapyrroles. Binds two molecules of 5-aminolevulinate per subunit, each at a distinct site, and catalyzes their condensation to form porphobilinogen
Cytoplasm, cytosol
Acute hepatic porphyria
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AHP is characterized by attacks of gastrointestinal disturbances, abdominal colic, paralyses and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
ATP-dependent chaperone that functions as an unfoldase. As part of the ClpXP protease complex, it recognizes specific protein substrates, unfolds them using energy derived from ATP hydrolysis, and then translocates them to the proteolytic subunit (CLPP) of the ClpXP complex for degradation (PubMed:11923310, PubMed:22710082, PubMed:28874591). Thanks to its chaperone activity, it also functions in the incorporation of the pyridoxal phosphate cofactor into 5-aminolevulinate synthase, thereby activa
MitochondrionMitochondrion matrix, mitochondrion nucleoid
Protoporphyria, erythropoietic, 2
An autosomal dominant form of porphyria with onset in infancy. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.
Catalyzes the aerobic oxidative decarboxylation of propionate groups of rings A and B of coproporphyrinogen-III to yield the vinyl groups in protoporphyrinogen-IX and participates to the sixth step in the heme biosynthetic pathway
Mitochondrion intermembrane space
Hereditary coproporphyria
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces.
As part of the heme biosynthetic pathway, catalyzes the sequential polymerization of four molecules of porphobilinogen to form hydroxymethylbilane, also known as preuroporphyrinogen (PubMed:18004775, PubMed:18936296, PubMed:19138865, PubMed:23815679). Catalysis begins with the assembly of the dipyrromethane cofactor by the apoenzyme from two molecules of porphobilinogen or from preuroporphyrinogen. The covalently linked cofactor acts as a primer, around which the tetrapyrrole product is assemble
Cytoplasm, cytosol
Acute intermittent porphyria
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. AIP is an autosomal dominant form of hepatic porphyria characterized by attacks of gastrointestinal disturbances, abdominal colic, with neurological dysfunctions, hypertension, tachycardia and peripheral neuropathy. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors.
Catalyzes cyclization of the linear tetrapyrrole, hydroxymethylbilane, to the macrocyclic uroporphyrinogen III, the branch point for the various sub-pathways leading to the wide diversity of porphyrins (PubMed:11689424, PubMed:18004775). Porphyrins act as cofactors for a multitude of enzymes that perform a variety of processes within the cell such as methionine synthesis (vitamin B12) or oxygen transport (heme) (PubMed:11689424, PubMed:18004775)
Cytoplasm, cytosol
Congenital erythropoietic porphyria
Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. The manifestations of CEP are heterogeneous, ranging from nonimmune hydrops fetalis due to severe hemolytic anemia in utero to milder, later onset forms, which have only skin lesions due to cutaneous photosensitivity in adult life. The deficiency in UROS activity results in the non-enzymatic conversion of hydroxymethylbilane (HMB) into the uroporphyrinogen-I isomer.
Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-products (PubMed:14643893, PubMed:21252495, PubMed:21309041, PubMed:21653323, PubMed:32499479, PubMed:34492704). Contributes significantly to heme formation during erythropoiesis (PubMed:2050125) Catalyzes the pyridoxal 5'-phosphate (PLP)-dependent condensation of succinyl-CoA and glycine to form aminolevulinic acid (ALA), with CoA and CO2 as by-
Mitochondrion inner membrane
Anemia, sideroblastic, 1
A form of sideroblastic anemia that shows a variable hematologic response to pharmacologic doses of pyridoxine. Sideroblastic anemia is characterized by anemia of varying severity, hypochromic peripheral erythrocytes, systemic iron overload secondary to chronic ineffective erythropoiesis, and the presence of bone marrow ringed sideroblasts. Sideroblasts are characterized by iron-loaded mitochondria clustered around the nucleus.
Catalyzes the ferrous insertion into protoporphyrin IX and participates in the terminal step in the heme biosynthetic pathway
Mitochondrion inner membrane
Protoporphyria, erythropoietic, 1
An autosomal recessive form of porphyria with onset usually before age 10 years. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Erythropoietic protoporphyria is marked by excessive protoporphyrin in erythrocytes, plasma, liver and feces, and by widely varying photosensitive skin changes ranging from a burning or pruritic sensation to erythema, edema and wheals.
Catalyzes the sequential decarboxylation of the four acetate side chains of uroporphyrinogen to form coproporphyrinogen and participates in the fifth step in the heme biosynthetic pathway (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:18004775, PubMed:21668429). Isomer I or isomer III of uroporphyrinogen may serve as substrate, but only coproporphyrinogen III can ultimately be converted to heme (PubMed:11069625, PubMed:11719352, PubMed:14633982, PubMed:21668429). In vitro also decarb
Cytoplasm, cytosol
Familial porphyria cutanea tarda
A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Familial porphyria cutanea tarda is an autosomal dominant disorder characterized by light-sensitive dermatitis, with onset in later life. It is associated with the excretion of large amounts of uroporphyrin in the urine. Iron overload is often present in association with varying degrees of liver damage.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
443 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 346 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
7 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Porfiria
Centros de Referência SUS
21 centros habilitados pelo SUS para Porfiria
Centros para Porfiria
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
7 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
67 ensaios clínicos encontrados, 12 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 1.296
Reference intervals for fasting insulin and insulin-related indices in healthy adults: a cross-sectional study in Gandaki Province, Nepal.
Accurate assessment of insulin resistance, sensitivity and β-cell function is essential for early detection and management of metabolic disorders. However, reference intervals (RIs) commonly used in Nepal have been adapted from Western populations, which may not accurately reflect local physiological characteristics. Thus, this study aimed to establish population-specific RIs for fasting insulin and key insulin-related indices using a direct priori method in healthy adults from Gandaki Province, Nepal. This cross-sectional study recruited 135 healthy adults (20-69 years, body mass index 18.5-24.9 kg/m²) representing different districts of Gandaki Province, Nepal. Fasting blood samples were analysed for glucose, insulin and lipids using standardised assays. Insulin was measured using the chemiluminescence immunoassay method. Nineteen different insulin-derived indices (Homeostasis Model Assessment 1 of Insulin Resistance (HOMA1-IR), Homeostasis Model Assessment 2 of Insulin Resistance (HOMA2-IR), Homeostasis Model Assessment for Triglycerides, Fasting Insulin to Glucose Ratio, Fasting Insulin Resistance Index, Metabolic Score for Insulin Resistance (METS-IR), InsuTAG, HOMA1-%S, HOMA2-%S, Quantitative Insulin Sensitivity Check Index (QUICKI), McAuley, Bennett, Raynaud, Glucose-to-Insulin Ratio, Fasting Insulin Sensitivity Index, Single Point Insulin Sensitivity Estimator (SPISE), reciprocal insulin, HOMA1-%B and HOMA2-%B) were calculated. Non-parametric 95% double-sided RIs (2.5th-97.5th percentiles) were established following outlier removal per Clinical and Laboratory Standards Institute-International Federation of Clinical Chemistry and Laboratory Medicine EP28-A3c guidelines. The RI for fasting insulin was 2.63-14.56 µIU/mL (median 7.69 µIU/mL). Among the 19 mathematically correlated insulin-derived indices which are calculated from core measurements (fasting serum insulin and glucose), consistent patterns emerged across functional categories. Insulin resistance indices (HOMA1-IR: 0.56-3.50; HOMA2-IR: 0.30-1.70; METS-IR: 25.14-38.94) exhibited concordant right-skewed distributions with elevated upper limits. Conversely, insulin sensitivity indices (QUICKI: 0.32-0.42; HOMA2-%S: 58.83-233.20; SPISE: 5.75-10.86) demonstrated inverse, left-skewed patterns. Beta-cell function indices (HOMA1-%B: 0.54-322.21; HOMA2-%β: 40.74-159.52) also exhibited right skewed characteristics and revealed wide interindividual variability, reflecting preserved pancreatic reserve despite varying insulin resistance. Composite indices incorporating lipid parameters showed broader ranges, capturing additional metabolic heterogeneity. This is the first study to define the RIs of fasting insulin and a spectrum of insulin derived indices in a Nepalese population. These findings offer a valuable framework for early detection and management of metabolic disorders in South Asian populations.
Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
We report on an infant girl with biliary atresia, who, at the age of 6 months, received a living-related liver transplantation (LRLT), (segments II/III) from her 37-year-old healthy mother. Five months after LRLT, the child developed skin lesions on sunlight exposed skin areas. Based on plasma fluorescence scanning, biochemical findings and DNA testing variegate porphyria (VP) was diagnosed in the girl. In this remarkable case hepatic heme synthesis was induced in the transplanted liver through medication (metamizole), stress and infection (cholangitis), unmasking previously undiscovered partial enzyme deficiency of PPOX. LRLT with subsequent manifestation of heterozygous VP in very early childhood has not been described hitherto. Our report will increase awareness of "rare risks" for "rare diseases" in liver transplantation.
Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
Protoporphyrias are rare genetic disorders in heme biosynthesis, causing protoporphyrin IX accumulation with progressive liver injury. Liver transplantation has traditionally treated protoporphyria-induced liver injury but does not correct the underlying hematopoietic defect. We present a 16-year-old male with painful cutaneous photosensitivity who developed cholestatic liver dysfunction and severe abdominal pain. After plasmapheresis, red blood cell (RBC) transfusions, and intravenous hemin, he had transient improvement and subsequently underwent hematopoietic stem cell transplantation (HSCT) without liver transplantation, which normalized his protoporphyrin levels, liver function, and symptoms. This case underscores HSCT as a disease-modifying therapy that may prevent liver transplantation when performed before irreversible hepatic damage.
CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets.
Deciphering gene and protein functions and interactions remains a core challenge in biology and medicine. Gene set analysis and multi-omics tools are widely used to interpret gene lists; however, they often overlook shared evolutionary patterns among genes. These conservation and loss patterns, shaped by billions of years of evolutionary pressure, can uncover co-evolutionary signals within gene sets, yet they remain frequently underexplored. In this study, we apply normalized phylogenetic profiling (NPP) across 1905 eukaryotic species and introduce CladeOScope-GSA, a tool for analyzing user-defined gene sets. CladeOScope-GSA uncovers common signatures of conservation, revealing whether a gene set evolves as a cohesive unit or as distinct co-evolving submodules. By tracing gene set origins, diversification, and shared evolutionary histories, the tool identifies the structural organization and key components of gene networks, exposing functional similarities, phenotypic associations, and broader biological relationships. We demonstrate its utility through two well-characterized cases: the porphyria-related pathway and the dynein gene family. In both, CladeOScope-GSA recapitulates known functional substructures and uncovers previously unrecognized evolutionary insights, underscoring its value for advancing our understanding of gene function and pathway evolution on a broad scale.
Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias.
Porphyrias are inherited or acquired disorders of heme biosynthesis characterized by heme deficiency and accumulation of toxic intermediates. In δ-aminolevulinic acid dehydratase deficiency porphyria (ALADP), patients consistently present elevated urinary δ-aminolevulinic acid (δ-ALA) and coproporphyrin III (COPRO III), yet the mechanistic basis of COPRO III accumulation remains unclear. This metabolic disturbance is also observed in the porphyria-like associated crises in hereditary tyrosinemia type I (HT1). Here, we investigated the effects of δ-ALA, COPRO III, and lead (Pb2+) on human coproporphyrinogen oxidase (CPOX), a key mitochondrial enzyme in heme biosynthesis. Using purified recombinant CPOX, we show that COPRO III binds with high affinity (KD ≈ 2.1 μM) and acts as a competitive inhibitor, while δ-ALA inhibits CPOX at millimolar concentrations through a non-competitive, likely covalent, mechanism. In vivo, δ-ALA accumulation in an HT1 mouse model led to hepatic COPRO III buildup, consistent with our in vitro findings and supporting a synergistic inhibition model in which δ-ALA promotes secondary COPRO III accumulation that further impairs CPOX. Additionally, Pb2+ was found to inactivate CPOX, likely through oxidative damage, providing a molecular explanation for enzyme dysfunction in porphyrin abnormalities in response to lead intoxication. Together, these results identify multiple metabolite- and toxin-dependent mechanisms that converge on CPOX inhibition, offering new insights into the pathophysiology of ALADP, among other porphyrias, lead intoxication, and HT1.
Publicações recentes
An X. Rbm38 binds Fech pre-mRNA to prevent anemia and porphyria. Blood. 2025;146(25):3016-3017.
📖 RevisãoAcute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report.
Real-World Experience With Givosiran in Acute Porphyrias: A Narrative Review and a Novel Hypothesis.
Constipation with megacolon or acute porphyria.
🥈 ObservacionalPrioritizing Contaminants of Emerging Concern in the Yangtze River Basin: An Integrated Assessment Combining Exposure-Activity Ratios and Adverse Outcome Pathways.
📚 EuropePMC6.246 artigos no totalmostrando 195
Clinical Practice Guidelines for the Management of Porphyrias in Japan: Secondary Publication (English Translation).
The Journal of dermatologyReference intervals for fasting insulin and insulin-related indices in healthy adults: a cross-sectional study in Gandaki Province, Nepal.
BMJ openAcute hepatic porphyria masquerading as familial Mediterranean fever: results of a cross-sectional porphobilinogen screening.
Orphanet journal of rare diseasesHematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).
Bone marrow transplantationLiver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
Gastroenterology reportA type 2 diabetes patient with three years of persistent abdominal pain: the culprit was variegate porphyria-a case report.
Frontiers in endocrinologyResult harmonization in medical laboratories: accomplishments and challenges.
Clinical chemistry and laboratory medicineRecommendations for establishing metrological traceability for in vitro diagnostic measurement procedures intended to be used for whole blood samples.
Clinica chimica acta; international journal of clinical chemistryHematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
Clinics and research in hepatology and gastroenterologyConsiderations and pragmatic strategies for implementation of point of care testing for high sensitivity cardiac troponin into the acute care setting.
Clinical chemistry and laboratory medicineWhen Recurrent Pancreatitis Is Not Pancreatitis: Cyclic Vomiting Syndrome Masquerading as Acute Pancreatitis in a Young Adult.
CureusProbable Acute Hepatic Porphyria Diagnosed Using Urinary Porphyrin Spectrophotometry in a Resource-Limited Setting: A Case Report.
CureusBiallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report.
Journal of medical case reportsCongenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.
Reports (MDPI)Management of porphyria-like syndrome in tyrosinemia type 1.
Journal of pediatric endocrinology & metabolism : JPEMHyponatremia and Abdominal Pain: A Case Report of Acute Hepatic Porphyria.
CureusCladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets.
International journal of molecular sciencesAminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias.
Bioscience reportsFrom photosensitivity to autoimmunity: the role of AI metabolomics in PCT-celiac disease overlap.
Annals of medicine and surgery (2012)Laparoscopic bariatric surgery versus any non-surgical intervention for adolescents or adults with obesity: protocol for a systematic review with meta-analysis and trial sequential analysis of randomised clinical trials.
BMJ openHepatic Porphyria Presenting with Persistent Abdominal Pain: A Case Report and Literature Review.
Iranian journal of pathologyPredictive value of stress hyperglycaemia ratio and haemoglobin glycation index for mortality risks in critically ill patients: a comparative retrospective analysis of the MIMIC-IV database using machine learning-based predictive modelling.
BMJ openSIADH as an Underrecognized Manifestation of Porphyria-like Crises in Hereditary Tyrosinemia Type 1: Clinical and Pathophysiological Insights.
International journal of molecular sciencesTolvaptan: a potential rescue therapy for SIADH with refractory hyponatremia associated with acute intermittent porphyria.
Journal of pediatric endocrinology & metabolism : JPEMFrom darkness to light: Case report on afamelanotide-treatment in a 9-year-old child with erythropoietic protoporphyria.
JAAD case reportsGenetic traits and diet triggering the iron-induced hepatic model of the idiopathic disorder sporadic porphyria cutanea tarda.
Free radical biology & medicinePorphyria Diagnostics Part 3: Biochemical Protocols for the Diagnosis of Porphyrias.
Current protocolsThe ketogenic diet is not for everyone: contraindications, side effects, and drug interactions.
Annals of medicineVisible Light Protection Strategies for Diverse Populations.
Dermatology and therapyThe Epigenetic Angle in the Precision Medicine Era for Blood Disorder Advancements.
Sub-cellular biochemistryNew pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective.
Orphanet journal of rare diseasesClaw hands in acute intermittent porphyria.
Oxford medical case reportsProtocol for a non-randomised stepped-wedge pilot trial for 'Nra:gi Ya:yun' (very good foods): a co-designed type 2 diabetes and metabolic syndrome initiative with Aboriginal people living on Ngarrindjeri Ruwe.
BMJ openParaneoplastic hypoglycemia caused by hepatocarcinoma in a patient with acute intermittent porphyria.
Journal of gastrointestinal and liver diseases : JGLDCongenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.
NeonatologyRbm38 binds Fech pre-mRNA to prevent anemia and porphyria.
BloodThe Case of a 37-Year-Old Woman Presenting With Subacute Weakness and Paresthesias.
Annals of clinical and translational neurologyBitopertin shows efficacy in patients with erythropoietic protoporphyria: Results from the randomized, double-blind, placebo-controlled AURORA trial.
Journal of the American Academy of DermatologyPsychiatric Presentation of Hereditary Coproporphyria with Coproporphyrinogen Oxidase Gene Mutation c.734 C>T: A Case Report.
Noro psikiyatri arsiviLiver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report.
JIMD reports[A case of severe liver injury associated with erythropoietic protoporphyria].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyRecommendations for recognizing and diagnosing Acute Hepatic Porphyria in atypical patient populations.
Orphanet journal of rare diseasesPorphyria cutanea tarda in children: epidemiological study of a rare disease in Argentina.
MedicinaThe challenge of persistent physical symptoms.
The British journal of general practice : the journal of the Royal College of General PractitionersA Curious Case of Abdominal Pain with Reset Osmostat and Rhabdomyolysis.
The Journal of the Association of Physicians of IndiaAcute hepatic porphyrias.
Porto biomedical journalAcute Necrotizing Pancreatitis Secondary to Acute Intermittent Porphyria: A Rare Clinical Association.
ACG case reports journalNew cases of δ-aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model.
Journal of internal medicineThe Changing Face of Academic Laboratory Medicine-A Decade Later and Beyond.
Clinical chemistryAcute Protoporphyric Hepatopathy as the Initial Presentation of Erythropoietic Protoporphyria in Adulthood.
ACG case reports journalEpidemiological characteristics and natural history of porphyria - a twenty-year population-based analysis in Taiwan.
Orphanet journal of rare diseasesPorphyrias: Pathophysiology and clinical management recommendations for hepatologists.
Hepatology communicationsCommon features of rare disease patients in the emergency department: a systematised literature review.
Orphanet journal of rare diseasesAcute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report.
Case reports in neurological medicineResponses to 'Responses to "red fluorescence in porphyria cutanea tarda"'.
Journal of the European Academy of Dermatology and Venereology : JEADVStability of plasma and erythrocyte porphyrins: implications for diagnosis and monitoring of erythropoietic protoporphyria.
Journal of clinical pathologyNeurovisceral Syndrome in a Patient with Monoclonal Gammopathy of Undetermined Significance: A Confirmed Case of Variegate Porphyria.
Cureus[Two siblings with congenital erythropoietic porphyria in one family: case report and literature review].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsPersistent Beetroot Colored Urine in a Three-Year-Old Child: A Case Report.
Clinical case reportsPediatric Liver Diseases: Next-Generation Therapies.
Clinics in liver diseaseHFE related acute porphyria-like attack induced by severe influenza A pneumonia.
Clinical biochemistryLate recurrence of congenital erythropoietic porphyria symptoms after initial remission post-bone marrow transplant.
Indian journal of dermatology, venereology and leprologyResponses to 'Red fluorescence in porphyria cutanea tarda'.
Journal of the European Academy of Dermatology and Venereology : JEADVIgA-autoantibodies to Histone 2B and alcohol-associated liver disease (ALD): Another drop in the ocean of potential useful biomarkers.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverImpact of diabetes and obesity on patient outcomes in alcohol-associated liver disease: Analysis of 3 databases.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverAcute Intermittent Porphyria: A Rare Cause of Postoperative Abdominal Pain and Hyponatremia.
CureusClinical management of pigmented purpuric dermatoses: evidence from a survey among the Study Group on Cutaneous Vascular Diseases of the Italian Society of Dermatology and Venereology.
Italian journal of dermatology and venereology[Porphyria cutanea tarda and hepatitis C infection].
Ugeskrift for laeger[Porphyria cutanea tarda].
Ugeskrift for laegerPathogenesis and clinical management of liver damage in porphyrias: Mechanisms and therapeutic approaches.
World journal of hepatologyOral lipoteichoic and lipoic acids improve insulin resistance and body composition in porphyria mice on a high-carbohydrate diet.
Journal of physiology and biochemistryTirzepatide for the treatment of adults living with concurrent type 1 diabetes and overweight or obesity (TZP-T1D): a double-blind, placebo-matched randomised controlled trial protocol.
BMJ openRbm38 deficiency impairs erythroid heme biosynthesis and induces porphyria via reduced ferrochelatase expression.
BloodCord blood porphyrin analysis in neonates at risk of inheriting protoporphyria: An observational cohort study.
British journal of haematologyReduced PPOX Expression Causes Intrinsic Pathogenicity in Keratinocytes, Contributing to the Cutaneous Variegate Porphyria Phenotype.
The Journal of investigative dermatologyRed fluorescence in porphyria cutanea tarda.
Journal of the European Academy of Dermatology and Venereology : JEADVSafety of Everolimus and Sirolimus-Eluting Coronary Devices in a Patient With Porphyria Presenting With Acute Coronary Syndromes: A Two-Year Follow-Up.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & InterventionsDevelopment and validation of an LC-MS/MS method for measurement of porphobilinogen in urine.
Clinica chimica acta; international journal of clinical chemistryErythropoietic protoporphyria in childhood: clinical clues, missed diagnoses and emerging therapy.
European journal of pediatricsPrimary adrenal insufficiency associated with homozygous hereditary coproporphyria.
European journal of endocrinologyScreening for acute hepatic porphyria in postural tachycardia syndrome.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyAnimal Models of Porphyria with Hepatic Involvement.
Seminars in liver diseaseDorsal Hand Involvement in Porphyria Cutanea Tarda.
Acta medica portuguesaSchizophrenia and psychosis in children and adolescents: An inspiring journey of scientific progress and the rich influences of history and religion.
Disease-a-month : DMClinical significance of anti-mitochondrial antibodies and PBC-specific anti-nuclear antibodies in evaluating atypical primary biliary cholangitis with normal alkaline phosphatase levels.
Clinical chemistry and laboratory medicineImpact of delay in diagnosis in patients with erythropoietic protoporphyria: A cross-sectional survey study.
JAAD internationalPorphyria Cutanea Tarda: A Multifactorial Disease.
CureusA female adolescent with hyponatremia, seizure, rhabdomyolysis, arterial hypertension and neuropsychiatric symptoms.
Wiener medizinische Wochenschrift (1946)Topical Chlormethine Gel in the Treatment of Lymphomatoid Papulosis: A Case Report and Literature Review.
Journal of clinical medicineDemonstrating commutability of an existing certified reference material for use with an end-user measurement procedure that was not included in the original commutability assessment.
Clinica chimica acta; international journal of clinical chemistryJaundice in an Adult Female Patient With Photosensitivity.
ACG case reports journalAcute psychosis in variegate porphyria: a case report.
Neuropsychiatrie : Klinik, Diagnostik, Therapie und Rehabilitation : Organ der Gesellschaft Osterreichischer Nervenarzte und PsychiaterAfamelanotide in managing cutaneous phototoxicity in erythropoietic protoporphyria: a Scottish perspective.
Clinical and experimental dermatology[Abdominal pain and severely impaired consciousness in a 19-year-old female patient].
Innere Medizin (Heidelberg, Germany)Features of Undiagnosed Abdominal Pain and Diagnostic Status of Acute Hepatic Porphyria in Japan: A Retrospective Study.
International journal of medical sciencesManaging Psychosis in Acute Intermittent Porphyria: A Case Report on Olanzapine Use.
CureusAn Adolescent Female With Disordered Eating and Cannabis Use Found to Have Acute Intermittent Porphyria.
Case reports in psychiatryGuide for the classification of porphyrias using state-of-the-art reverse-phase high-performance liquid chromatography.
Scandinavian journal of clinical and laboratory investigationCoexistence of Mycosis Fungoides and Photosensitive or Autoimmune Diseases. The Therapeutic Challenge: A retrospective Case Series from a Tertiary Referral Center.
The Israel Medical Association journal : IMAJSuccessful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria.
Case reports in transplantationComparison of Pyrazinamide with Isoniazid for Their Effects on the Heme Biosynthetic Pathway in Mouse Liver.
MetabolitesClinical Features and Outcomes of Acute Intermittent Porphyria Presenting With Acute Quadriparesis: A Case Series and Follow-Up Study.
European journal of neurologySunscreen and Photoprotection Habits for Patients With Porphyria and Non-Porphyric Photosensitivity Conditions.
Photodermatology, photoimmunology & photomedicineComparative effectiveness of human hematin and heme arginate in the management of porphyria attacks: an observational study across three hospitals in Colombia.
Hospital practice (1995)Part I. Dermatologic Manifestations in Patients with Kidney Disease.
Journal of the American Academy of DermatologyOATP1B1/1B3 deficiency exacerbates hyperbilirubinemia in erythropoietic protoporphyria.
Drug metabolism and disposition: the biological fate of chemicalsAtypical Presentation of Homozygous UROD Mutation: Porphyria Cutanea Tarda or Mild Hepatoerythropoietic Porphyria?
Clinical geneticsPorphyria Cutanea Tarda: A Phenotypic Expression of Several Genes.
CureusHaematological parameters in erythropoietic protoporphyria: A multi-national study.
British journal of haematologyA Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.
Liver international : official journal of the International Association for the Study of the LiverPorphyria cutanea tarda and systemic lupus erythematosus: a case report.
Journal of medical case reports5-Aminolevulonic Acid, a New Tumor Contrast Agent: Anesthesia Considerations in Patients Undergoing Craniotomy.
Journal of neurosurgical anesthesiologyUnique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.
Clinical medicine insights. Case reportsSporadic Porphyria Cutanea Tarda, Cutaneous Sarcoidosis, and Compound Heterozygosity of HFE Mutations Cys282Tyr and His63Asp-A Case Report.
EJHaemA Systematic Review and Meta-Analysis of Ocular and Periocular Basal Cell Carcinoma with First-Time Description of Dermoscopic and Reflectance Confocal Microscopy Features of Caruncle Basal Cell Carcinoma.
Diagnostics (Basel, Switzerland)Skin Manifestations Among Individuals With Hepatitis C Infection.
CureusHydroa Vacciniforme: A Rare Pediatric Photodermatosis.
CureusAxonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome.
The NeurohospitalistAcute Hepatic Porphyria vs. Guillain-Barré Syndrome: Response to "Axonal Neuropathy in Hepatic Porphyria Should Not be Confused With Guillain-Barre Syndrome".
The NeurohospitalistSex differences in associations between body composition and cardiometabolic indicators in Chinese children: a cross-sectional study.
BMJ openSpecific effects on liver relevant for performing a dietary cumulative risk assessment of pesticide residues.
EFSA journal. European Food Safety AuthorityBiological Variation of Erythrocyte Total, Metal-Free, and Zinc Protoporphyrin IX in Patients with Erythropoietic Protoporphyria and Healthy Subjects: Implications for Clinical Interpretation and Monitoring.
Clinical chemistryEfficacy and safety of givosiran in Japanese patients with acute hepatic porphyria: clinical findings from an expanded access study.
Scientific reportsPrimary adrenal insufficiency in patients with CPOX gene mutations.
European journal of endocrinologyDiagnostic and Therapeutic Challenges in an Acute Variegate Porphyric Crisis Complicated by Anuric Renal Failure and Multiorgan Dysfunction: A Case Report.
The American journal of case reportsIron deficiency in patients with cardiogenic shock: protocol for a scoping review.
BMJ openCongenital Erythropoietic Porphyria.
JAMA dermatologyIdentification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.
Frontiers in geneticsUnderstanding Coproporphyrins and Their Disposition: Coproporphyrinuria is Common, of Diverse Cause, and Rarely Indicates Porphyria.
The American journal of medicineA New Generation of Porphyrias: A Case of Acute Intermittent Porphyria.
CureusRecurrence of hypoglycaemia and associated factors among neonates admitted with perinatal asphyxia in Northwest Ethiopia: multicentre, retrospective follow-up study with negative binomial regression.
BMJ openUnmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome.
BMC neurologyAcute Hepatic Porphyria Presenting as Guillain-Barré Syndrome: Importance of Early Recognition and Screening.
The NeurohospitalistAlpha-lipoic acid on intermediate disease markers in overweight or obese adults: a systematic review and meta-analysis.
BMJ openHepatocellular Carcinoma in Acute Porphyria: Incidence and Risk Factors.
Digestive diseases and sciencesBlistering photosensitivity in an icteric patient-think of variegate porphyria.
QJM : monthly journal of the Association of PhysiciansTreatment of Porphyria Cutanea Tarda Scarring With Combination Laser Treatment and a Pilot Use of Artificial Intelligence to Quantify Laser Results.
Journal of cosmetic dermatologyCLO25-068: Hereditary Porphyria and the Risk of Hematological and Solid Malignancies: A Retrospective Cohort Study.
Journal of the National Comprehensive Cancer Network : JNCCNPorphyria presenting as posterior reversible encephalopathy syndrome.
Acta neurologica BelgicaInfluence of military preventive policy for recruit training on COVID-19 seroconversion: the IMPACT-COVID-19 study.
BMJ military healthUnmasking Osmotic Demyelination Syndrome/Extrapontine Myelinolysis in Acute Intermittent Porphyria: Preventable Complications-Challenges in Diagnosis and Management.
Annals of Indian Academy of NeurologyCharacterizing hepatic porphyria: Insights from a quaternary care hospital in Bogotá, Colombia (2013-2023).
The Journal of international medical researchNeurodevelopmental retardation and neurological symptoms in homozygous variegate porphyria: two new cases and a literature review.
Orphanet journal of rare diseasesA novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings.
Frontiers in geneticsThe risk of skin infections in end-stage renal disease patients with porphyria cutanea tarda: A retrospective cohort study.
The American journal of the medical sciencesGerman Cohort Observational Study to Investigate the Short- and Long-Term Safety and Clinical Effectiveness of Afamelanotide 16 mg (SCENESSE) in Patients With Erythropoietic Protoporphyria (EPP).
Photodermatology, photoimmunology & photomedicineAssociation of maternal metabolic risk factors with offspring body mass index (BMI) trajectories in early childhood: a retrospective cohort study.
BMJ openNutrition and rare diseases: a case study of patients with acute intermittent porphyria (AIP).
Nutrition & metabolismDefining Predictive Factors for Permanent Chemotherapy-Induced Alopecia: Trichoscopy, Reflectance Confocal Microscopy and Histopathology Study on 77 Patients.
Dermatology and therapyHepatoerythropoietic Porphyria with Coexisting BTD And CNGB1 Genetic Mutations: A First Case Report.
European journal of case reports in internal medicineCutaneous T-cell lymphomas: a real-life experience of anticipated use of mogamulizumab in Italy.
Italian journal of dermatology and venereologyCongenital erythropoietic porphyria: the overlooked inherited disorder.
BMJ case reportsFatal outcome of erythropoietic protoporphyria with advanced liver disease.
Clinics and research in hepatology and gastroenterologyAcute hepatic porphyria in Denmark; a retrospective study.
Orphanet journal of rare diseasesLong-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels-a single-centre retrospective study.
Frontiers in molecular biosciencesPractical Recommendations in the Treatment of Acute and Chronic Life-Threatening Infectious Diseases in Patients with Acute Hepatic Porphyria.
MetabolitesA case report of acute intermittent porphyria presenting with reversible cerebral vasoconstriction syndrome.
MedicineAcute Hepatic Porphyria Should Be Included in the Diagnostic Work-Up of Patients with Resistant Hypertension or Suspected Secondary Hypertension.
Medical sciences (Basel, Switzerland)Paternal Split-Liver Transplantation Followed by Haploidentical Hematopoietic Cell Transplantation in an Adult Patient With Protoporphyria-Induced Liver Failure.
EJHaemIdentifying haemochromatosis patients with C282Y homozygosity from inpatient electronic patient records in England using a novel algorithm: a retrospective observational study.
BMJ openAn easily overlooked disease in the early stages: acute intermittent porphyria.
BMC neurologyScavenger endothelial cells alleviate tissue damage by engulfing toxic molecules derived from hemolysis.
Proceedings of the National Academy of Sciences of the United States of AmericaPorphyria Diagnostics Part 2: Essential Biochemical Testing for Diagnosis of the Porphyrias.
Current protocolsPorphyric encephalopathy in a 15-year-old girl: A case report.
SAGE open medical case reportsHepatocyte Rho-associated kinase signaling is required for mice to survive experimental porphyria-associated liver injury.
Hepatology communicationsSpecialty laboratory testing for chronic abdominal pain in irritable bowel syndrome.
Scandinavian journal of gastroenterologyHypophosphatemic Rickets as a Key Sign for the Diagnosis of Hereditary Tyrosinemia Type 1: Case Reports and Narrative Review of the Literature.
Revista medica de ChileCost-Benefit Analysis of in vivo Reflectance Confocal Microscopy for Melanoma Diagnosis in a Real-World Clinical Setting.
Risk management and healthcare policyThe Histamine Pathway is a Target to Treat Hepatic Experimental Erythropoietic Protoporphyria.
Cellular and molecular gastroenterology and hepatologyPatient experience with acute hepatic porphyria before and after long-term givosiran treatment in a qualitative interview study.
Molecular genetics and metabolism reportsPremature Calcification of Costochondral Cartilage: A Scoping Review of the Literature.
CureusClinical Advantages of Phlebotomy: An Umbrella Review of Meta-Analyses.
Iranian journal of public healthDiagnosing Porphyria in a Female Patient With Diffuse Pelvic Pain: A Case Study.
CureusAcute Intermittent Porphyria in an Adolescent Patient: Diagnostic and Treatment Challenges.
CureusBaseline urinary ALA and PBG as criteria for starting pharmacologic prophylactic treatment in acute intermittent porphyria treated with givosiran.
Molecular genetics and metabolism reportsRecommendations for assessing commutability of a replacement batch of a secondary calibrator certified reference material.
Clinica chimica acta; international journal of clinical chemistryEnhanced cardiovascular risks in patients with porphyria Cutanea Tarda: A retrospective cohort study.
Journal of the European Academy of Dermatology and Venereology : JEADVProfound hypotonia in an infant with δ-aminolevulinic acid dehydratase deficient porphyria.
European journal of human genetics : EJHGConcordance Among In Vivo Reflectance Confocal Microscopy, Trichoscopy, and Histopathology in the Evaluation of Alopecia Areata Incognita.
Dermatology practical & conceptualMilia within resolving bullous pemphigoid lesions.
Dermatology online journalPorphyria cutanea tarda: a unique iron-related disorder.
Hematology. American Society of Hematology. Education ProgramGivosiran: a targeted treatment for acute intermittent porphyria.
Hematology. American Society of Hematology. Education ProgramInhibition of ABCG2 prevents phototoxicity in a mouse model of erythropoietic protoporphyria.
Nature communicationsGerman Real-World Experience of Patients with Diverse Features of Acute Intermittent Porphyria Treated with Givosiran.
Journal of clinical medicinePemafibrate for treating MASLD complicated by hypertriglyceridaemia: a multicentre, open-label, randomised controlled trial study protocol.
BMJ openPorphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.
CureusA 38-year-Old Woman With Flaccid Tetraparesis after Presenting With Abdominal Pain.
The NeurohospitalistWorsening abdominal pain leading to false laparotomy: A case of acute intermittent porphyria.
JPMA. The Journal of the Pakistan Medical AssociationEffects of internet-based health education on patients with acute intermittent porphyria.
Orphanet journal of rare diseasesSystematic review and meta-analysis of biological variation data of urine albumin, albumin to creatinine ratio and other markers in urine.
Clinica chimica acta; international journal of clinical chemistryNeedle-like red cell inclusions in congenital erythropoietic porphyria.
British journal of haematologyAcute Intermittent Porphyria: A Diagnostic Conundrum.
CureusNontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patients.
Journal of inherited metabolic diseaseHepatocellular Carcinoma in Acute Hepatic Porphyria: A Meta-Analysis of Observational Studies.
Digestive diseases and sciencesHyponatremia associated with acute intermittent porphyria.
Kidney internationalAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Reference intervals for fasting insulin and insulin-related indices in healthy adults: a cross-sectional study in Gandaki Province, Nepal.
- Liver graft as a 'Trojan horse': manifestation of variegate porphyria in an 11-month-old girl with biliary atresia after living-related liver transplantation.
- Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.
- CladeOScope-GSA: Revealing Evolutionary Associations Across Gene Sets.
- Aminolevulinate inhibition of human coproporphyrinogen oxidase clarifies coproporphyrin III accumulation in porphyrias.
- An X. Rbm38 binds Fech pre-mRNA to prevent anemia and porphyria. Blood. 2025;146(25):3016-3017.
- Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome: a case report.
- Real-World Experience With Givosiran in Acute Porphyrias: A Narrative Review and a Novel Hypothesis.
- Constipation with megacolon or acute porphyria.
- Prioritizing Contaminants of Emerging Concern in the Yangtze River Basin: An Integrated Assessment Combining Exposure-Activity Ratios and Adverse Outcome Pathways.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:738(Orphanet)
- MONDO:0019142(MONDO)
- Porfiria Aguda Intermitente(PCDT · Ministério da Saúde)
- GARD:10353(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q271759(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
