Raras
Buscar doenças, sintomas, genes...
Doença do metabolismo de peptídeos
ORPHA:79187CID-11 · 5C50.FDOENÇA RARA

A dopamina beta-hidroxilase (DBH), também conhecida como dopamina beta-mono-oxigenase, é uma enzima presente em seres humanos, responsável principalmente pela conversão de dopamina em norepinefrina/noradrenalina.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

Doença rara do metabolismo de peptídeos, associada a genes como PEPD e NPHP3, manifesta-se com baixa linha de implantação capilar, cistite recorrente, eritema e alterações ungueais. Pode apresentar aracnodactilia, ceratodermia palmoplantar, deficiência visual e aplasia/hipoplasia da pele.

🏥
SUS: Cobertura mínimaScore: 20%
Centros em: PA, PR, SC, RS, ES +8
Você se identifica com essa condição?
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧬
Pele e cabelo
14 sintomas
😀
Face
9 sintomas
🧠
Neurológico
7 sintomas
🦴
Ossos e articulações
5 sintomas
👁️
Olhos
4 sintomas
🫁
Pulmão
4 sintomas

+ 16 sintomas em outras categorias

Características mais comuns

Linha de implantação anterior do cabelo baixa
Cistite recorrente
Eritema
Mecha de cabelo branca
Morfologia anormal da unha
Aracnodactilia
71sintomas
Sem dados (71)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 71 características clínicas mais associadas, ordenadas por frequência.

Linha de implantação anterior do cabelo baixaLow anterior hairline
Cistite recorrenteRecurrent cystitis
EritemaErythema
Mecha de cabelo brancaWhite forelock
Morfologia anormal da unhaAbnormal fingernail morphology

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2025Hoje · 2026🧪 1994Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

4 genes identificados com associação a esta condição.

PEPDXaa-Pro dipeptidaseDisease-causing germline mutation(s) inTolerante
FUNÇÃO

Dipeptidase that catalyzes the hydrolysis of dipeptides with a prolyl (Xaa-Pro) or hydroxyprolyl residue in the C-terminal position (PubMed:17081196, PubMed:35165443). The preferred dipeptide substrate is Gly-Pro, but other Xaa-Pro dipeptides, such as Ala-Pro, Met-Pro, Phe-Pro, Val-Pro and Leu-Pro, can be cleaved (PubMed:17081196). Plays an important role in collagen metabolism because the high level of iminoacids in collagen (PubMed:2925654)

LOCALIZAÇÃO

MECANISMO DE DOENÇA

Prolidase deficiency

A multisystem disorder associated with massive iminodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. Clinical features include skin ulcers, developmental delay, recurrent infections, and a characteristic facies.

EXPRESSÃO TECIDUAL(Ubíquo)
Rim - Córtex
111.3 TPM
Intestino delgado
101.6 TPM
Tecido adiposo
72.6 TPM
Nervo tibial
72.4 TPM
Útero
68.4 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (1)
prolidase deficiency
HGNC:8840UniProt:P12955
NPHP3Nephrocystin-3Candidate gene tested inTolerante
FUNÇÃO

Required for normal ciliary development and function. Inhibits disheveled-1-induced canonical Wnt-signaling activity and may also play a role in the control of non-canonical Wnt signaling which regulates planar cell polarity. Probably acts as a molecular switch between different Wnt signaling pathways. Required for proper convergent extension cell movements

LOCALIZAÇÃO

Cell projection, cilium

VIAS BIOLÓGICAS (1)
Trafficking of myristoylated proteins to the cilium
MECANISMO DE DOENÇA

Nephronophthisis 3

An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction.

EXPRESSÃO TECIDUAL(Ubíquo)
Ovário
63.6 TPM
Fallopian Tube
51.7 TPM
Cervix Endocervix
50.2 TPM
Cervix Ectocervix
48.3 TPM
Nervo tibial
45.7 TPM
OUTRAS DOENÇAS (7)
NPHP3-related Meckel-like syndromenephronophthisis 3renal-hepatic-pancreatic dysplasia 1nephronophthisis 2
HGNC:7907UniProt:Q7Z494
MAPKBP1Mitogen-activated protein kinase-binding protein 1Candidate gene tested inRestrito
FUNÇÃO

Negative regulator of NOD2 function. It down-regulates NOD2-induced processes such as activation of NF-kappa-B signaling, IL8 secretion and antibacterial response (PubMed:22700971). Involved in JNK signaling pathway (By similarity)

LOCALIZAÇÃO

CytoplasmNucleusCytoplasm, cytoskeleton, spindle pole

MECANISMO DE DOENÇA

Nephronophthisis 20

A form of nephronophthisis, an autosomal recessive chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. NPHP20 patients do not show extrarenal manifestations or evidence of a ciliopathy, such as situs inversus or polydactyly.

EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
124.0 TPM
Cérebro - Hemisfério cerebelar
107.6 TPM
Testículo
78.7 TPM
Skin Not Sun Exposed Suprapubic
31.5 TPM
Skin Sun Exposed Lower leg
30.9 TPM
OUTRAS DOENÇAS (3)
nephronophthisis 20nephronophthisis 1late-onset nephronophthisis
HGNC:29536UniProt:O60336
XPNPEP3Xaa-Pro aminopeptidase 3Candidate gene tested inTolerante
FUNÇÃO

Catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Leu-Pro-Ala (PubMed:25609706, PubMed:28476889). Also shows low activity towards peptides with Ala or Ser at the P1 position (PubMed:28476889) Promotes TNFRSF1B-mediated phosphorylation of MAPK8/JNK1 and MAPK9/JNK2, suggesting a function as an adapter protein for TNFRSF1B; the effect is independent of XPNPEP3 peptidase activity. May inhibit apoptotic cell death induced via TNF-TNFRSF1B signaling

LOCALIZAÇÃO

MitochondrionCytoplasm

MECANISMO DE DOENÇA

Nephronophthisis-like nephropathy 1

An autosomal recessive disorder with features of nephronophthisis, a cystic kidney disease leading to end-stage renal failure. Nephronophthisis is histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. Typical clinical manifestation are chronic renal failure, anemia, polyuria, polydipsia, isosthenuria, and growth retardation. Associations with extrarenal symptoms are frequent. In NPHPL1 patients, extrarenal symptoms include hypertension, essential tremor, sensorineural hearing loss and gout. Severely affected individuals can manifest a mitochondrial disorder with isolated complex I deficiency activity in muscle, seizures, intellectual disability and hypertrophic dilated cardiomyopathy.

EXPRESSÃO TECIDUAL(Ubíquo)
Testículo
17.8 TPM
Ovário
9.5 TPM
Nervo tibial
9.3 TPM
Fibroblastos
8.6 TPM
Tireoide
8.5 TPM
OUTRAS DOENÇAS (2)
nephronophthisis-like nephropathy 1late-onset nephronophthisis
HGNC:28052UniProt:Q9NQH7

Variantes genéticas (ClinVar)

414 variantes patogênicas registradas no ClinVar.

🧬 PEPD: NM_000285.4(PEPD):c.802C>T (p.Gln268Ter) ()
🧬 PEPD: NM_000285.4(PEPD):c.17+1G>C ()
🧬 PEPD: NM_000285.4(PEPD):c.968-1G>A ()
🧬 PEPD: NM_000285.4(PEPD):c.548+1G>A ()
🧬 PEPD: NM_000285.4(PEPD):c.634G>T (p.Ala212Ser) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 32
1Fase 11
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença do metabolismo de peptídeos

Centros de Referência SUS

21 centros habilitados pelo SUS para Doença do metabolismo de peptídeos

Centros para Doença do metabolismo de peptídeos

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

NUPAD / Faculdade de Medicina UFMG

Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226

Serviço de Referência

Rota
Erros Inatos do Metabolismo

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da Universidade Federal de Pernambuco

Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Onofre Lopes (HUOL)

Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570

Atenção Especializada

Rota
Erros Inatos do Metabolismo

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Erros Inatos do Metabolismo

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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

🟢 Recrutando agora

3 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

0 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Ophiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.

Analytical cellular pathology (Amsterdam)2026

Este estudo promissor indica que a ophiopogonina D (OP-D) pode ser um tratamento eficaz para a esteato-hepatite não alcoólica (NASH), uma doença hepática progressiva. Para pacientes e médicos, isso significa a descoberta de um potencial novo fármaco que atua reduzindo a cicatrização do fígado (fibrose) ao regular um tipo de morte celular (ferroptose) e inibir a via AKT1/STAT3/HIF-1α, mecanismos-chave na progressão da NASH.

🇧🇷 traduzido
#2

Eligibility for lecanemab treatment in a French memory clinic setting.

Journal of neurology2026 Mar 23

Este estudo revela que a elegibilidade para o tratamento com lecanemab, um novo medicamento para a Doença de Alzheimer, é extremamente limitada em ambientes clínicos reais, atingindo apenas cerca de 2-3% dos pacientes em clínicas de memória. As principais barreiras para médicos e pacientes são critérios rigorosos, como pontuações baixas em testes cognitivos (MMSE) e achados em exames de ressonância magnética, além da perda de elegibilidade devido à progressão da doença. Isso enfatiza a urgência de um diagnóstico precoce e a criação de vias de triagem eficientes para que os pacientes elegíveis possam acessar o tratamento a tempo.

🇧🇷 traduzido
#3

Multiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.

BMJ open gastroenterology2026 Mar 23

Este estudo multiômico detalhou como o guselkumab, um inibidor seletivo da IL-23, atua para tratar a colite ulcerosa moderada a grave. A pesquisa revelou que o tratamento não só reduz significativamente a inflamação no sangue e nos tecidos do intestino, como também promove a reparação do revestimento epitelial. Essas mudanças moleculares e celulares foram diretamente ligadas à melhora clínica e à cicatrização da mucosa intestinal (conhecida como HEMI), um objetivo fundamental para pacientes e médicos.

🇧🇷 traduzido
#4

Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.

The Turkish journal of pediatrics2026 Feb 27

Este estudo investigou o uso de apelin-13 e galectina-3 como indicadores de gravidade e mortalidade na Síndrome do Desconforto Respiratório Agudo Pediátrico (PARDS). Descobriu-se que os níveis de galectina-3 no soro são significativamente mais altos em pacientes com PARDS e aumentam com a gravidade da doença, sendo o único preditor independente de mortalidade. Embora o apelin-13 não tenha demonstrado o mesmo potencial, a galectina-3 emerge como um promissor biomarcador que pode auxiliar médicos na avaliação da gravidade do PARDS e no prognóstico de risco para crianças.

🇧🇷 traduzido
#5

Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.

PloS one2026

A hemorragia intracerebral (HIC) é uma condição neurológica devastadora. Este estudo em camundongos demonstrou que o modulador de GABAAR CL218872 **melhorou os resultados neurocomportamentais**, **reduziu a inflamação** e **promoveu o reparo neuronal e a plasticidade sináptica** após a HIC. Os achados sugerem que o CL218872 tem **efeitos neuroprotetores e neurorestauradores**, indicando seu potencial como uma nova abordagem terapêutica para o manejo da HIC em pacientes.

🇧🇷 traduzido

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Multiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.

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Journal of pharmacological sciences
2026

Is Alzheimer's an Autoimmune Disease?

Molecular neurobiology
2026

Propranolol enhances the oncolytic effect of newcastle disease virus on canine mammary tumor cell by modulating the IFN-I-mediated JAK-STAT signaling pathway.

The veterinary quarterly
2026

Unlocking the potential of TNF: From biologic agents to small-molecule inhibitors.

European journal of medicinal chemistry
2026

The Janus face of parathyroid hormone in renal osteodystrophy.

Kidney international
2026

Integration of plasma eMTBR-tau243 and p-tau217 in the diagnosis and stratification of Alzheimer's disease: a prospective cohort study.

The Lancet. Neurology
2026

Targeting the gut microbiota as treatment for obesity and cancer cachexia.

Expert opinion on emerging drugs
2026

Decoding Neuroinflammatory Pathways: The Role of the CXCL12-CXCR4/CXCR7 Axis in ALS-Related Cognitive Impairment.

Molecular neurobiology
2026

Tissue-Specific Differential Flux Analysis Reveals Metabolic Insights Into Pancreatic β-Cell Dysfunction in Type 2 Diabetes.

Biotechnology and bioengineering
2026

Therapeutic potential of liraglutide in rheumatoid arthritis: Modulation of inflammation, apoptosis, and metabolic dysfunction in a rat model.

The Journal of pharmacology and experimental therapeutics
2026

Integrated bioinformatics analysis reveals cross-talking hub genes and therapeutic agents between sepsis and acute myocardial infarction.

Annals of medicine
2026

Single-cell multiomics uncovers an endothelial mechanosensitive PIEZO1-IL-33 axis driving pulmonary fibrosis.

Nature communications
2026

Nephroprotective Effects of Vanillic Acid on Bortezomib-Induced Renal Injury: Role of Oxidative Stress, Mitochondrial Dysfunction, Apoptosis and miR-204/Nephrin/Podocin/CD2AP Axis.

Basic & clinical pharmacology & toxicology
2026

Efficacy and safety of Tirzepatide in patients with heart failure with preserved ejection fraction: A systematic review and meta-analysis.

Disease-a-month : DM
2026

Effect of Glucagon-Like-Peptide-1 Receptor Agonists (GLP-1 RA) on Neuropsychiatric Outcomes: A Systematic Review and Meta-Analysis.

Clinical therapeutics
2026

Pathogenesis of necrotizing sialometaplasia: Insights from histopathological examination and disease model analysis.

Journal of oral biosciences
2026

Surfactin selectively suppresses acidogenicity in Streptococcus sobrinus without inhibiting growth or biofilm formation.

Journal of oral biosciences
2026

Investigating T-cell subpopulation-associated cytokine imbalance in vitiligo pathogenesis and the role of traditional Chinese medicine: A review.

Medicine
2026

Genetic evidence for a causal protective effect of GLP-1 receptor agonists on paralytic ileus but not on other gastrointestinal events.

Medicine
2026

Circulating cytokines mediate the risk of COPD: A mediation analysis based on 473 gut microbiota and 91 circulating cytokines.

Medicine
2026

Safety Assessment of Glucagon-Like Peptide 1 Receptor Agonists Based on the FAERS Database: Focus on Tumorigenic Risk in Subpopulations.

Journal of diabetes research
2026

Brain neuronal CG9593/ANGPTL4 activation mediates paternally acquired motor disorders.

Science advances
2026

Identification of somatostatin+ inhibitory engrams for extinction in the basolateral amygdala.

Proceedings of the National Academy of Sciences of the United States of America
2026

CLDN3 inhibits rotavirus attachment by targeting residue 74 of VP7.

PLoS pathogens
2026

Intestinal barrier damage is associated with fine particulate matter (PM2.5)-induced pathological aortic injury in mice.

PloS one
2026

Mechanistic insights into nicardipine's anti-colitic action: inhibition of pro-inflammatory cytokines, attenuation of oxidative stress, and protection of the mucosal barrier.

Molecular biology reports
2026

FGF21-Mediated Upregulation of SIRT1 Delays Intervertebral Disc Degeneration by Promoting PINK1/Parkin Dependent Mitophagy Through Deacetylation of FOXO3.

Aging cell
2026

An APE1 Redox Inhibitor Attenuates Pathological Retinal Vascularization by Suppressing FGF2 Angiogenic Signaling.

Investigative ophthalmology & visual science
2026

Targeting CRBN With Thalidomide Suppresses Fibrosis After Glaucoma Drainage Surgery Through NF-κB Pathway Inhibition.

Investigative ophthalmology & visual science
2026

Apolipoprotein E Deficiency Impairs Human Microglial Proliferation Accompanied by Elevated Cellular Oxidative Stress.

Journal of cellular and molecular medicine
2026

Treatment with CernitinTM of induced urinary bladder inflammation downregulates relevant pro-inflammatory biomarkers - an experimental in vivo rodent model.

Scandinavian journal of urology
2026

Combined effects of unilateral nasal obstruction and occlusal bite-raising on mandibular condylar development in growing rats.

European journal of orthodontics
2026

Colonic biopsy-associated microbial signatures are predictive of response to anti-TNFα biological therapy in Crohn's disease.

Frontiers in cellular and infection microbiology
2026

Corrigendum to: The Short and Sweet on Sodium-Glucose Cotransporter Inhibitors and Glucagon-like Peptide-1 Receptor Agonists in Heart Failure.

US cardiology
2026

T cell and cytokine signatures as early predictors of response to IL-12/IL-23 inhibition in Crohn's disease.

Frontiers in immunology
2026

Identification of gemilukast as a bifunctional molecule with lipid-lowering and anti-inflammatory activities.

Frontiers in immunology
2026

Upregulation of miR-146a-5p and miR-146b-5p limits IL-1β-mediated signaling in adipose tissue during polytrauma by downregulating IRAK1.

Frontiers in immunology
2026

Cytokine imbalance and HBV-specific T-cell exhaustion predict disease progression in HIV-HBV coinfection.

Frontiers in immunology
2026

Femoral fracture leads to moderate pulmonary organ damage in aged mice and induces immune alterations.

Frontiers in immunology
2026

Efficacy of Nebulized Pentoxifylline in a Mouse Model of Emphysema Induced by Cigarette Smoke and Aerosolized Lipopolysaccharide.

International journal of chronic obstructive pulmonary disease
2025

Morphological changes and lateralization of the thalamic nuclei in children with growth hormone deficiency.

Frontiers in endocrinology
2026

Immune cytokines as a bridge linking the gut-liver-ovary axis in the pathogenesis of premature ovarian failure.

Frontiers in endocrinology
2026

Investigating the role of FKBP4 in testis germ cell tumor via integrated in silico approach.

In silico pharmacology
2026

Estrogen Induced Regulation of Mucosal-Associated Invariant T Cells in Asthma.

Journal of immunology research
2026

Glutathione Impacts Both Batrachochytrium dendrobatidis Virulence and Amphibian Cellular Defense in a Chytridiomycosis Model.

MicrobiologyOpen
2026

Reference intervals for fasting insulin and insulin-related indices in healthy adults: a cross-sectional study in Gandaki Province, Nepal.

BMJ open
2026

Ocular complications from glucagon-like peptide-1 receptor agonists: Clinical evidence, potential mechanisms, and clinical recommendations.

Journal of the Chinese Medical Association : JCMA
2026

Glucagon-like peptide-1 receptor agonists for major cardiovascular and kidney outcomes in type 1 diabetes.

Nature medicine
2026

StrucGAP: a modular, streamlined and traceable data mining platform for structural and site-specific glycoproteomics.

Nature communications
2026

[A clinical prediction model for failure to attain standard body weight in the early postoperative period after sleeve gastrectomy: construction and validation based on feature screening via the Boruta algorithm].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2026

[Chinese expert consensus on diagnosis and treatment of short bowel syndrome in adults (2026 version)].

Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
2026

Association of eating disorders and/or insulin omission with impaired glycaemic control in persons living with type 1 diabetes: cross-sectional analysis of the French SFDT1 study.

BMJ open
2026

Metabolic insights into the 3xTg-AD Alzheimer model mice: Unraveling the hypothalamic-pituitary-thyroid axis and beyond.

Psychoneuroendocrinology
2026

Rapamycin treatment reduces CD11c+ microglia and increases amyloid plaque load in 5xFAD mice.

Experimental neurology
2026

Iatrogenic Cerebral Amyloid Angiopathy After Cardiac Surgery: Two Case Reports.

Neurology
2026

A sympathetic-eosinophil axis orchestrates psychological stress to exacerbate skin inflammation.

Science (New York, N.Y.)
2026

Hypothalamic clock governs circadian pain.

Science (New York, N.Y.)
2026

[GLP-1 agonists : indications and pancreatic and endoscopic safety considerations].

Revue medicale suisse
2026

MASLD as a systemic metabolic disease: expanding the scope of cardiovascular-kidney-metabolic (CKM) syndrome.

Science China. Life sciences
2026

Therapeutic Potential of Somatostatin and Its Analogues in Alzheimer's Disease: From Molecular Mechanisms to Preclinical Studies.

Molecular neurobiology
2026

Regulator of Calcineurin 1 Aggravates Tubular Epithelial Cell Injury in Diabetic Mice Through Promoting Liver Kinase B1 Ubiquitination.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Systemic Sonic Hedgehog Signaling Links Intestinal Nutrient Sensing With Sex-Specific Type 2 Diabetes Progression.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Aging-Dependent Hepatic YAP1 Reduction Promotes Metabolic Dysfunction-Associated Steatotic Liver Disease via Gut Microbiota Dysbiosis With Akkermansia muciniphila Downregulation.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2026

Coronary Artery Calcium as a Biological Staging Marker for Atherosclerosis: Aligning Preventive Therapies With Plaque Evolution.

Cardiology in review
2026

Bile acids are associated with baseline and longitudinal amyloid and tau pathology in patients with Alzheimer's disease.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Honokiol and Magnolol Exert an Anti-Inflammatory Effect by Inhibiting JAK2/STAT3/IL17 Signalling in a Rat Model of Ulcerative Colitis: A Combination of Bioinformatics and Experimental Study.

Journal of cellular and molecular medicine
2026

Behavioural withdrawal during an acute stress test as a marker of psychobiological vulnerability in hereditary angioedema.

Frontiers in immunology
2026

TGF-β and IL-4 + IL-13 induce neuroplasticity in an in vitro model of hPSC-derived sensory neurons.

Frontiers in immunology
2026

Associations of childhood trauma with clinical features and inflammatory cytokines in adolescents with first-episode and recurrent major depressive disorder.

Frontiers in immunology
2026

Quantitative evaluation of T-cell repertoire restoration following hematopoietic stem cell transplantation in patients with and without graft versus host disease.

Frontiers in immunology
2026

Obacunone Promotes Functional Recovery After Spinal Cord Injury by Attenuating Neuroinflammation by Targeting the TLR4/MyD88/p38 MAPK Pathway.

Drug design, development and therapy
2026

Microencapsulated Akkermansia muciniphila alleviates acute lung injury in juvenile mice by protecting intestinal barrier.

Frontiers in cellular and infection microbiology
2026

Retrospective real-world database study to examine the prevalence and incidence of cardiovascular diseases and medication prescription in Japanese patients with type 2 diabetes.

Diabetology international
2026

Real world experience with [68Ga]PentixaFor PET/CT in Primary Aldosteronism using newly developed harmonized diagnostic criteria.

Frontiers in endocrinology
2026

Thrombotic thrombocytopenic purpura in pregnancy: Lessons from a case series of three patients.

The Journal of international medical research
2026

Mitochondrial Adaptations in Skeletal Muscle Following Incretin-Based Therapies: In Vitro.

Journal of cachexia, sarcopenia and muscle
2026

Machine Learning Integrates Bulk and Single-Nucleus RNA Sequence to Explore Apoptosis-Related Gene in Myocardial Infarction.

Cardiovascular therapeutics
2026

GLP-1-derived therapies and risk of sarcopenia: myth or reality?

Expert opinion on drug safety
2026

Prussian blue analogue-mineralized ginseng-derived vesicles promote PPARγ nuclear translocation to suppress tumor vasculogenic mimicry and reverse the immunosuppressive microenvironment.

Journal of nanobiotechnology
2026

GLP-1 guidelines amid an obesity epidemic: a poor fit for the Global South.

Archives of public health = Archives belges de sante publique
2026

Chalcone-based Pyrazoline Derivatives as Modulators of Neuroinflammatory and Redox Pathways in Experimental Epilepsy.

Molecular neurobiology
2026

Engineered Lecithin-Polymer Hybrid Micelles for Enhanced Gallic Acid Delivery: Response Surface Optimization and Preclinical Evaluation.

AAPS PharmSciTech
2026

Sphingosine-1-Phosphate Receptor 3 Mediated Neuroinflammation is Critically Involved in the Development of Brain Injury Following Cardiac Arrest in Mice.

Neurochemical research
2026

Efficacy of topical erythropoietin gel and mouthwash for recurrent aphthous stomatitis in a randomized clinical trial.

Scientific reports
2026

Spatial heterogeneity of MDSCs mediated by ANXA1-FPRs signaling drives immune suppression in OSCC progression.

Nature communications
2026

Tracking early cognitive decline in preclinical AD with brain MRI similarity.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Top-Down Mass Spectrometry-Based Structural and Functional Proteomics: A Perspective.

Journal of mass spectrometry : JMS
2026

Practical management of glucagon-like peptide-1 receptor agonists in gastroenterology: a position paper by the Italian Society of Gastroenterology (SIGE).

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2026

Enzymes of physiological amyloidogenesis control pathological amyloid toxicity.

Life science alliance
2026

A review on molecular crosstalk: Bioactive polysaccharides and gut microbiota in type 2 diabetes-Pathways, signaling, and therapeutic translation.

International journal of biological macromolecules
2026

Inhibition of MAPK p38α overcomes the cancer immunosurveillance defect caused by FPR1 loss-of-function mutation.

Cell reports. Medicine
2026

Suboptimal therapeutic responses associated with semaglutide in type 2 diabetes and obesity: A meta-analysis of randomized controlled trials.

Cell reports. Medicine
2026

The role of mesencephalic astrocyte-derived neurotrophic factor in digestive diseases.

Annals of medicine
2026

Amyloid-β as a target to suppress tonic PTH hypersecretion in hyperparathyroidism due to vitamin D deficiency.

Science translational medicine
2026

Fetal developmental trajectories following maternal immune activation are shaped by sex chromosome-gonadal interactions.

Proceedings of the National Academy of Sciences of the United States of America
2026

Correlation between clinical disease activity and interferon-γ autoantibody titers measured by inhibitory ELISA, and inflammatory biomarkers in adult-onset immunodeficiency associated with anti-interferon-γ autoantibodies.

PloS one
2026

Identification of novel plasma proteomic biomarkers of Dupuytren disease.

PloS one
2026

Renal Outcomes of GLP-1 Receptor Agonists and Tirzepatide Across CKD Stages and Metabolic Phenotypes (Type 2 Diabetes and/or Overweight/Obesity): A Scoping Review.

Diabetes therapy : research, treatment and education of diabetes and related disorders
2026

Hydroxyl radical footprinting modification reveals an intradomain communication pathway in EFL1 disrupted by a Shwachman-Diamond syndrome-associated mutation.

Protein science : a publication of the Protein Society
2025

Effects of TNF-α Inhibitors on Subclinical Atherosclerosis and Endothelial Function in Patients with Psoriatic Arthritis: A Systematic Review.

La Tunisie medicale
2025

Exploring surgical failures in primary hyperparathyroidism.

La Tunisie medicale
2025

Evaluation of Endostatin Levels in COVID-19 Patients Admitted to the Emergency Department.

La Tunisie medicale
2026

Cathepsin B promotes asthma potentially via macrophage-associated autophagy and apoptosis.

Journal of immunology (Baltimore, Md. : 1950)
2026

CXCL13/CXCR5 chemokine axis promotes antiviral CXCR5+CD19+ B Cells and follicular/effector CXCR5+CD4+ T Cells in the lungs associated with protection from severe and fatal COVID-19 following infection with pathogenic SARS-CoV-2 Delta variant.

Journal of immunology (Baltimore, Md. : 1950)
2026

Correlation between serum prolactin and the systemic immune-inflammation index in diabetic kidney disease: a cross-sectional study.

Frontiers in endocrinology
2026

Pearl Powder Fluorescent Carbon Dots Alleviate Neuroinflammation in Cerebral Ischemia/Reperfusion Through Suppression of Anxa2/NF-κB Signaling Pathway.

International journal of nanomedicine
2026

Macrophage-derived CCL20 promotes abdominal aortic aneurysm progression via lymphocytes CCR6.

Frontiers in immunology
2026

Cytokine profiles, genetic polymorphisms, and systemic inflammatory markers in type 1 diabetes patients with COVID-19: IL-18 a predictor of disease severity.

Frontiers in immunology
2026

Interaction between NKG2D and its ligands MICA/B activates the DAP12/SYK/p53/p21 axis to drive pulmonary fibrosis.

Frontiers in immunology
2026

Circulating Toll-like receptor and cytokine profiles and genetic polymorphisms in a Chinese sepsis cohort: potential links to neuroinflammation and blood-brain barrier dysfunction.

Frontiers in immunology
2026

Effect of Glucagon-Like Peptide-1 (GLP-1) Receptor Agonists and Sodium-Glucose Cotransporter-2 (SGLT-2) Inhibitors on Atherosclerotic Cardiovascular Risk Among Patients With Type 2 Diabetes in Primary Health Care Settings in Jeddah, Saudi Arabia.

Cureus
2026

IL-15 Links Muscle-Kidney Crosstalk to Preserving Podocyte Mitochondrial Fusion and Attenuating Diabetic Nephropathy.

Journal of cachexia, sarcopenia and muscle
2026

Early prediction of acute kidney injury after therapeutic paracentesis in decompensated liver cirrhosis: diagnostic value of IL-18, KIM-1, and FGF-23.

Renal failure
2026

Colonic inflammatory response in a D-galactose-induced aging model: elevated IL-1β expression.

Journal of molecular histology
2026

Neuro-tumor interactions in peripheral tumors.

Cancer metastasis reviews
2026

Endothelial C-type natriuretic peptide/guanylyl cyclase-B signaling prevents pulmonary arterial hypertension.

Nature communications
2026

Evaluating the potential of acupuncture for Alzheimer's disease treatment: A meta-analysis and systematic review of mouse model studies.

Translational psychiatry
2026

C/EBPβ dictates postmenopausal FSHβ transcription and blockade of AEP/C/EBPβ pathway alleviates osteoporosis.

Bone research
2026

Dectin-1 epigenetic reprogramming rescues senescent-like Treg function in allergic asthma.

Life science alliance
2026

Contingency of Plasma Dementia Biomarkers on Cognitive Profiles for Prognosis of Incident Dementia: The ARIC Study.

Neurology
2026

Early Postprandial Response of Skeletal Muscle Phosphoproteome in Type 2 Diabetes Is Comparable to That in Healthy Individuals.

Biochemistry. Biokhimiia
2026

MAPK/ERK Signaling Pathway in Schizophrenia: Expression Levels of Regulatory Proteins in Peripheral Blood Mononuclear Cells.

Biochemistry. Biokhimiia
2026

Beta-Amyloid Suppresses Mitochondrial ATP Production in Human Neuroblastoma Cells.

Biochemistry. Biokhimiia
2026

The role of combining exercise with pharmacologic management of CKD: From SGLT2 and GLP-1 to broader therapeutic strategies.

Nephron
2026

ATP13A2 restrains macrophage NLRP3 inflammasome activation to repress neurodegeneration via modulating mitochondrial homeostasis.

Proceedings of the National Academy of Sciences of the United States of America
2026

LL-37 selectively targets Plasmodium-infected erythrocytes and exhibits antimalarial activity.

PLoS pathogens
2026

The pharmacodynamics of polymyxin B in Acinetobacter baumannii in murine thigh and lung infection models.

The Journal of antimicrobial chemotherapy
2026

Morinda officinalis polysaccharide improves osteoporosis by enhancing m⁶A-modified SOCS5 mRNA stability via regulating the hsa_circ_0001165/IGF2BP2 axis.

Molecular genetics and genomics : MGG
2026

Probiotic and immune-modulatory capacities of three human gut-derived strains of Parabacteroides distasonis.

Archives of microbiology
2026

Macrophage RNA polymerase II subunit 5-mediating protein deficiency exacerbates kidney inflammation and fibrosis.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

ML364 ameliorates NLRP3-induced inflammatory response.

Inflammation research : official journal of the European Histamine Research Society ... [et al.]
2026

The prevalence of autoimmune diseases in antibody negative type 1 diabetes mellitus.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Novel anti-rheumatic potential of Eucalrobusone C: inhibition of rheumatoid arthritis fibroblast-like synoviocytes and metabolic reprogramming.

Artificial cells, nanomedicine, and biotechnology
2026

Treatment of hypoparathyroidism (HypoPT): Position Statement of the Expert Group for Polish Society of Endocrinology - update 2026.

Endokrynologia Polska
2026

The Adiponectin-PP2A Pathway Confers Cognitive Benefits of Physical Exercise Against Chronic Stress-Induced Tau Hyperphosphorylation in the Hippocampus.

Aging cell
2026

Chronic cerebral hypoperfusion exacerbates amyloid and tau pathology by impairing glymphatic transport via AQP4- and VEGF-mediated pathways: insights from a vascular to mixed-type dementia model.

Alzheimer's & dementia : the journal of the Alzheimer's Association
2026

Ninjurin1 in cardiovascular and vascular biology: From molecular mechanisms to therapeutic opportunities.

Clinical and translational medicine
2026

Amantadine Enhances IL-10 Expressions to Maintain the Renal Functions Against Inflammation and Oxidative Stress via Increasing PI3K/AKT/HIF-1α Pathway and Decreasing AQP2-4 Signallings.

Basic & clinical pharmacology & toxicology
2026

Transcriptomic and metabolomic profiling reveals media- and host-dependent responses to Staphylococcus hominis in cell models.

PeerJ
2026

Maternal Undernutrition During Late Pregnancy Impairs Fetal Renal Development and Induces Apoptotic Pathway Activation in the Sheep Model.

Animal science journal = Nihon chikusan Gakkaiho
2026

Measurement of Tau Protein and Aβ Amyloid Plaques in Postmortem Human Brains of Down Syndrome and Alzheimer's Disease by Using [125I]IPPI and [125I]IBETA Autoradiography.

Synapse (New York, N.Y.)
2026

A multiomics Mendelian randomization study on PANoptosis-related genes and gastric cancer risk.

The Journal of international medical research
2026

Oncostatin-M ligand-based CAR-T therapy displays robust anti-tumor activity against osteosarcoma.

BMC medicine
2026

Starvation ketoacidosis associated with tirzepatide use for weight loss in a non-diabetic East Asian woman: a case report.

International journal of emergency medicine
2026

Unravelling Epigenetic Modulation via MicroRNA Delivery: A Therapeutic Frontier for Alzheimer's.

Molecular neurobiology
2026

The secretory protein, CLCF1, improves cholestatic liver disease by inhibiting hepatic bile acid synthesis and promoting bile acid excretion.

Communications biology
2026

Resting neuroendocrine markers in relation to acute mental stress-induced adrenergic reactivity profiles in adults: The SABPA study.

Physiological reports
2026

[Protective effect of moxibustion on ovarian function in mice with premature ovarian insufficiency based on mitochondrial fission].

Zhongguo zhen jiu = Chinese acupuncture & moxibustion
2026

[The role and mechanism of chemokine network in promoting osteoarthritis progression by regulating synovial macrophage heterogeneity].

Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery
2026

Pathogenic Significance of Serum Syndecan-1 and Syndecan-4 in Psoriasis.

Cutis
2026

Defective RNA Polymerase III sensing of mitochondrial DNA in pulmonary epithelial cells impairs type I IFN immunity to SARS-CoV-2.

Proceedings of the National Academy of Sciences of the United States of America
2026

High-affinity, structure-validated and selective macrocyclic peptide tools for chemical biology studies of Huntingtin.

Proceedings of the National Academy of Sciences of the United States of America
2026

Effects of a Hypertension Management Mobile App on Urinary Sodium Excretion in Patients With Chronic Kidney Disease: Randomized Controlled Trial.

JMIR mHealth and uHealth
2026

CRLF1 Secreted by Cardiac Fibroblasts Promotes Human Hypertrophic Cardiomyopathy.

Circulation
2026

Multi-omics analysis identifies CCNB1 as a cell cycle factor driving glioblastoma progression and its inhibition by resveratrol.

PloS one
2026

Mammosphere Assay Reveals Api5-Induced Stemness in Non-Tumorigenic Breast Epithelial Cell Lines.

Journal of visualized experiments : JoVE
2026

Amniotic Suspension Allograft and Bone Marrow Aspirate Concentrate Results in Highly Variable Proinflammatory Cytokines in a Coculture Model of Osteoarthritis.

Arthroscopy : the journal of arthroscopic & related surgery : official publication of the Arthroscopy Association of North America and the International Arthroscopy Association

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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.

  1. Ophiopogonin D Alleviates Nonalcoholic Steatohepatitis via Ferroptosis Through AKT1/STAT3/HIF-1α Axis.
    Analytical cellular pathology (Amsterdam)· 2026· PMID 41873055mais citado
  2. Eligibility for lecanemab treatment in a French memory clinic setting.
    Journal of neurology· 2026· PMID 41872339mais citado
  3. Multiomic characterisation of the clinical efficacy of guselkumab induction therapy in ulcerative colitis.
    BMJ open gastroenterology· 2026· PMID 41871904mais citado
  4. Prognostic significance of serum apelin-13 and galectin-3 concentrations as potential indicators of severity and mortality in pediatric acute respiratory distress syndrome.
    The Turkish journal of pediatrics· 2026· PMID 41871558mais citado
  5. Effects of GABAAR modulators CL218872 and MRK-016 on neural repair and synaptic plasticity in mice with Intracerebral hemorrhage.
    PloS one· 2026· PMID 41871059mais citado
  6. From plant pair to gastroprotection: chemical standardization and in vivo validation of Akebiae Fructus-Hoveniae semen against ethanol-mediated mucosal damage.
    J Pharm Pharmacol· 2026· PMID 41871122recente
  7. Phellopterin Inhibits Inflammation and Relieves Cartilage Degradation by Suppressing MAPK Signaling in Osteoarthritis.
    FASEB J· 2026· PMID 41870411recente
  8. Targeting PI3Kγ anchoring enhances CFTR membrane localization and modulator efficacy via PKD1.
    JCI Insight· 2026· PMID 41869727recente
  9. DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation.
    JCI Insight· 2026· PMID 41869723recente
  10. A Self-Assembling Nanomodulator for Synergistic Therapy of Intracerebral Hemorrhage.
    Int J Nanomedicine· 2026· PMID 41869397recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79187(Orphanet)
  2. MONDO:0019232(MONDO)
  3. GARD:18963(GARD (NIH))
  4. Variantes catalogadas(ClinVar)
  5. Q55788554(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

Doença do metabolismo de peptídeos
Compêndio · Raras BR

Doença do metabolismo de peptídeos

ORPHA:79187 · MONDO:0019232
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