Grupo de distúrbios de armazenamento lisossômico hereditários autossômicos recessivos ou ligados ao cromossomo X que afetam o metabolismo de mucopolissacarídeos, resultando no acúmulo de mucopolissacarídeos no corpo. Os sinais e sintomas incluem organomegalia, retardo mental, desenvolvimento esquelético anormal, distúrbios cardíacos, perda auditiva e deficiências do sistema nervoso central.
Introdução
O que você precisa saber de cara
A mucopolissacaridose é um grupo de doenças genéticas raras em que o corpo não consegue quebrar adequadamente certas moléculas chamadas mucopolissacarídeos. Com o passar do tempo, essas substâncias se acumulam e provocam alterações nos ossos, aumento de órgãos e dificuldades neurológicas ou respiratórias. O Ministério da Saúde aprovou diretrizes de tratamento para formas específicas, como o tipo I através da Portaria SECTICS/MS nº 6/2025, embora a categoria geral não conste na lista oficial de PCDT. O suporte médico contínuo é fundamental para gerenciar os sintomas e acompanhar as articulações, a audição e o coração.
Grupo de distúrbios de armazenamento lisossômico hereditários autossômicos recessivos ou ligados ao cromossomo X que afetam o metabolismo de mucopolissacarídeos, resultando no acúmulo de mucopolissacarídeos no corpo. Os sinais e sintomas incluem organomegalia, retardo mental, desenvolvimento esquelético anormal, distúrbios cardíacos, perda auditiva e deficiências do sistema nervoso central.
O que está sendo pesquisado
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 148 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 398 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
13 genes identificados com associação a esta condição.
Curadoria gene-doença
fontes oficiaisMucopolysaccharidosis 7
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS7 is an autosomal recessive form with a highly variable phenotype, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment.
Mucopolysaccharidosis 9
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS9 is an autosomal recessive form characterized by high hyaluronan concentration in the serum. Clinical features include periarticular soft tissue masses, mild short stature and acetabular erosions, and absence of neurological or visceral involvement.
Nephrolithiasis, calcium oxalate, 1
A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON1 is characterized by calcium oxalate kidney stones.
Mucopolysaccharidosis 4A
A form of mucopolysaccharidosis type 4, an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life.
Mucopolysaccharidosis 10
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS10 is an autosomal recessive childhood-onset disorder. Clinical features include disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities.
Mucopolysaccharidosis 3D
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Mucopolysaccharidosis 3B
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Mucopolysaccharidosis 3A
A severe form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. MPS3A is characterized by earlier onset, rapid progression of symptoms and shorter survival.
Mucopolysaccharidosis 2
An X-linked lysosomal storage disease characterized by intracellular accumulation of heparan sulfate and dermatan sulfate and their excretion in urine. Most children with MPS2 have a severe form with early somatic abnormalities including skeletal deformities, hepatosplenomegaly, and progressive cardiopulmonary deterioration. A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to intellectual disability and dementia. They die before 15 years of age, usually as a result of obstructive airway disease or cardiac failure. In contrast, those with a mild form of MPS2 may survive into adulthood, with attenuated somatic complications and often without intellectual disability.
GM1-gangliosidosis 1
An autosomal recessive lysosomal storage disease marked by the accumulation of GM1 gangliosides, glycoproteins and keratan sulfate primarily in neurons of the central nervous system. GM1-gangliosidosis type 1 is characterized by onset within the first three months of life, central nervous system degeneration, coarse facial features, hepatosplenomegaly, skeletal dysmorphology reminiscent of Hurler syndrome, and rapidly progressive psychomotor deterioration. Urinary oligosaccharide levels are high. It leads to death usually between the first and second year of life.
Mucopolysaccharidosis 1H
A severe form of mucopolysaccharidosis type 1, a rare lysosomal storage disease characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. Patients with MPS1H usually present, within the first year of life, a combination of hepatosplenomegaly, skeletal deformities, corneal clouding and severe intellectual disability. Obstructive airways disease, respiratory infection and cardiac complications usually result in death before 10 years of age.
Mucopolysaccharidosis 6
A form of mucopolysaccharidosis, a group of lysosomal storage diseases characterized by defective degradation of glycosaminoglycans, resulting in their excessive accumulation and secretion. The diseases are progressive and often display a wide spectrum of clinical severity. MPS6 is an autosomal recessive form characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities.
Mucopolysaccharidosis 3C
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Medicamentos e terapias
Mecanismo: Histamine H1 receptor antagonist
Mecanismo: Transferrin receptor binding agent
Mecanismo: Growth hormone receptor agonist
Mecanismo: Interleukin-1 receptor antagonist
Mecanismo: Cannabinoid CB1 receptor negative allosteric modulator
Mecanismo: Atrial natriuretic peptide receptor B binding agent
Mecanismo: TNF-alpha inhibitor
Mecanismo: Amidophosphoribosyltransferase inhibitor
Mecanismo: Cyclophilin A modulator
Variantes genéticas (ClinVar)
498 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
28 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 — Mucopolissacaridose
Centros de Referência SUS
21 centros habilitados pelo SUS para Mucopolissacaridose
Centros para Mucopolissacaridose
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
Com ensaio aberto em 10 países. O ponto verde marca onde há vaga agora.
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Outros ensaios clínicos
175 ensaios clínicos encontrados, 43 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.263
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
The LYSET gene encodes the LYSET transmembrane protein, which regulates lysosome biogenesis by activating the mannose-6-phosphate (M6P) pathway. This is an autosomal recessive, ultrarare, and severe progressive skeletal dysplasia with coarse facies, distended abdomen, short stature, and severe physical disability. In a diagnostic odyssey, we report a female patient, born in 2008, daughter of consanguineous parents, with hand contractures and a typical facial appearance since 5 months old. She was clinically diagnosed at 2 years old with contractures and severe dysplasia. Systolic murmur, thickening of mitral and aortic valves, and tricuspid regurgitation were observed. Nine enzymes showed increased levels in plasma, and seven showed decreased levels in fibroblasts. Abnormal sialic acid profile and GAGs (glycosaminoglycans) were detected in urine. No variants were identified during more than a decade of investigation. A whole-genome analysis identified the homozygous nonsense variant NM_001098621.4:c.112C>T (p.Gln38Ter) in the LYSET gene. The patient had not been diagnosed before due to the recent association of the gene with the lysosomal hydrolase labeling pathway. She died in 2018 from respiratory causes. The discovery of the relationship between the LYSET gene and lysosomal biogenesis was determinative of the diagnostic conclusion. Cases of dysostosis multiplex can be highly challenging due to the rarity of the disease and its clinical similarity to mucopolysaccharidosis (MPS) and mucolipidosis II/III (MLII/III). This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P-labeled lysosomal enzymes are altered.
Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.
Mucopolysaccharidosis (MPS) represents a group of rare inherited metabolic disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) due to deficiencies of lysosomal enzymes. Mucopolysaccharidosis type I (MPS I) is caused by biallelic pathogenic variants in the IDUA gene and is inherited in an autosomal recessive pattern. The IDUA gene is located on chromosome 4p16.3 and encodes the lysosomal enzyme α-L-iduronidase, which plays a critical role in the degradation of GAGs, particularly dermatan sulfate and heparan sulfate. Reduced or absent IDUA enzymatic activity leads to the progressive accumulation of undegraded substrates within lysosomes, resulting in multisystem organ involvement. Based on clinical severity, MPS I is traditionally classified into three phenotypic subtypes: the severe form (Hurler syndrome), the intermediate form (Hurler-Scheie syndrome), and the attenuated form (Scheie syndrome, MPS I-S). This report describes a 13-year-old female patient in whom compound heterozygous pathogenic variants in the IDUA gene were identified by genetic testing, and whose clinical manifestations were consistent with the MPS I-S. In addition to typical skeletal and joint abnormalities, the patient also presented with uterine developmental abnormality. Currently, there is no definitive evidence supporting a direct causal relationship between MPS I and uterine developmental abnormalities; however, this case suggests a potential association between MPS I and reproductive system developmental abnormalities. This case may help further expand the phenotypic spectrum of MPS I and enhance clinical awareness of its multisystem involvement.
AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.
Mucopolysaccharidosis IVA (MPS IVA) is caused by the accumulation of undegraded glycosaminoglycans due to the deficiency of the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme. MPS IVA manifests as progressive systemic skeletal dysplasia. Gene therapy (GT) is potentially a one-time treatment in which the enzyme is continuously produced, circulated, and delivered to target tissues. However, immune responses to gene products can diminish therapeutic efficacy. We hypothesized that oral delivery of tolerogenic peptides induces immune tolerance to human GALNS (hGALNS) in MPS IVA mice, enhancing therapeutic efficacy. Neonatal mice deficient in mouse GALNS (mGALNS) were treated orally with three T-cell/B-cell epitope peptides or hGALNS protein on alternate days from day 3 after birth to day 20 before intravenous injection with AAV9 vectors encoding human GALNS on day 30. The results are encouraging, with anti-hGALNS antibodies undetectable in the plasma of orally administered peptide groups. hGALNS enzyme activities in plasma and tissues were higher in the orally treated groups than in the non-tolerized control group. Keratan sulfate levels in plasma, liver, and bone were normalized. Complete correction for heart vacuolization was achieved in peptide-treated groups, and partial correction for bone pathology was observed in all GT-treated groups. Overall, oral tolerance induction using immunodominant peptides promises to significantly enhance the efficacy of AAV-GT for MPS IVA.
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.
Molecular genetic testing is increasingly used in clinical care to identify genetic variants and their impact on disease burden. However, variants of uncertain significance (VUS) hamper the utility of molecular diagnostic testing. In patients presenting with Hunter Syndrome and VUS in the IDS gene, clinical testing for iduronate-2-sulfatase enzyme activity has been the mainstay to determine whether a variant is likely damaging. However, enzyme assays alone fail to predict disease severity. In this study, we developed an image-based cellular assay using genome-engineered cells with IDS variants to determine whether a specific variant causes morphological changes that are associated with disease. Specifically, we generated twelve mutant cell lines and documented both IDS biochemical activity and reproducible phenotypic differences therein. Next, we examined patient-derived cell lines and found the same phenotypic differences compared to parental controls. The morphological changes were complex, but measured on a single scale, which we termed PathScoreLC. To determine whether the observed changes are specific to IDS, we reintroduced a recombinant human IDS enzyme (rhIDS) to rescue both the biochemical and phenotypic changes of these cells. We found a partial rescue in the presence of corrective levels of IDS enzyme. Finally, we examined the differences in gene expression and found that a recombinant enzyme was not sufficient to fully restore transcriptional changes in the mutant lines at the time points studied. This proof-of-concept study establishes preliminary validation of the method and sets the stage for future functional studies and broader IDS variant testing.
Assessing the biopotency of the rAAV9 vector In Vitro.
The potency assay is critical to ensure the effectiveness and consistency of recombinant Adeno-associated Virus (AAV) gene therapy vectors, especially clinical-grade products. AAV serotype 9 (AAV9), known for its neurotropic properties and ability to cross the blood-brain barrier, has been a favored vector for targeting neurogenetic diseases. However, assessing AAV9 biopotency has been challenging due to the insusceptibility of the commonly used cell lines to AAV9. To address this, we utilized a cell-based potency assay using the liver-derived human hepatoma (HuH-7) cell line to evaluate infection by self-complementary (sc)-AAV9 vector expressing human N-sulfoglucosamine sulfohydrolase (hSGSH), currently undergoing evaluation as a potential treatment for Mucopolysaccharidosis (MPS) IIIA. The potency of various scAAV9-hSGSH vector batches was tested in HuH-7 cells which reproducibly expressed the transgene, resulting in measurable SGSH production. The SGSH expression and vector genome copies of various vector batches correlated linearly with the viral vector dose (R2 = 0.71-0.95), indicating a generally strong correlation. The reproducibility of the assay was demonstrated by consistent vector copy numbers and SGSH activity in transduced cells across multiple independent runs. Statistical analysis of the results showed high reliability, with relative intra-assay consistency showing a coefficient of variation (CV) of less than 20%) and inter-assay reproducibility with a CV of less than 25%) affirming the precision of the test. Additionally, our data also demonstrate that long-term (>2.5 years) storage at 2-4°C had no impact on the biopotency of rAAV9 vector confirming long-term stability of the vectors. Hence, we have effectively assessed the biopotency of rAAV9 vector in vitro utilizing HuH-7 cells. Overall, this in vitro assay provides a practical and reliable method to assess AAV9 potency, offering a valuable alternative to animal models and supporting the functional quality and consistency of AAV9 gene therapy vector products in general.
Publicações recentes
Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks.
Lipid Nanoparticle-Delivered mRNA Therapy Corrects Neonatal Murine MPS I-H.
AAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.
Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.
Diagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis.
📚 EuropePMC3.079 artigos no totalmostrando 199
The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency.
Clinical geneticsAuthor Correction: TFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.
Experimental & molecular medicineCase Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.
Frontiers in pediatricsAAV Gene Therapy for MPS IVA with Induction of Immune Tolerance via Oral Administration of Epitope Peptides of N-Acetylgalactosamine-6-sulfate Sulfatase.
International journal of molecular sciencesSubtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene.
Human molecular geneticsMucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.
BMC pediatricsRetinal Phenotype in Mucopolysaccharidosis Type III.
American journal of ophthalmologyDiagnostic utility of ultra-microangiography and shear wave elastography in pediatric carpal tunnel syndrome associated with mucopolysaccharidosis.
Pediatric radiologyDevelopment and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.
Disease models & mechanismsMyhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.
CureusComputational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA).
ACS omegaPhenotypes of Elosulfase Alfa-Induced Immediate Hypersensitivity Reactions and Long-term Outcomes of Desensitization in Mucopolysaccharidosis IVA.
International archives of allergy and immunologyEvaluation of GlcNAc-Configured Glycomimetics as Pharmacological Chaperones of NAGLU for the Treatment of Mucopolysaccharidosis IIIB.
BiomoleculesAssessing the biopotency of the rAAV9 vector In Vitro.
PloS oneNeurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.
Neurology internationalChronic myeloid leukaemia in a child with mucopolysaccharidosis type VI: diagnostic and management challenges.
BMJ case reportsAge-dependent reference intervals for cerebrospinal fluid and urine biomarkers of mucopolysaccharidoses.
Molecular genetics and metabolismIntrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
JIMD reportsT1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.
Journal of pediatric orthopedicsAutomated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.
Frontiers in endocrinology[Safety, tolerability, and pharmacokinetics of verenafusp alfa in healthy volunteers: results of an open-label multicohort phase I study].
Terapevticheskii arkhivLetter: Fluoxetine for Behavioral Problems in an 8-Year-Old with Mucopolysaccharidosis IIIA.
Journal of child and adolescent psychopharmacologyCarpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.
The Journal of hand surgery, European volumeImproving access to rare disease diagnostics in Africa: insights from a multinational pilot study.
Orphanet journal of rare diseasesTFEB, FOXO3 and TLR4 in resveratrol-induced autophagy in a mucopolysaccharidosis IIIB mouse model.
Experimental & molecular medicineA Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.
Iranian journal of pathologyClinical expert opinion on the role of elosulfase alfa in non-ambulatory individuals with Morquio A syndrome.
Molecular genetics and metabolism reportsAllogeneic Hematopoietic Cell Transplantation for Morquio A Syndrome: An International Retrospective Study.
Transplantation and cellular therapyCollagen Type II-Targeting Lentiviral Gene Therapy for Mucopolysaccharidosis IVA.
Current issues in molecular biologyUnveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.
Diseases (Basel, Switzerland)In vivo CRISPR/Cas9-mediated gene integration corrects mucopolysaccharidosis type II in mice.
Genes & diseasesEnhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.
Disease models & mechanismsMolecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Journal of inherited metabolic diseaseAntimicrobial use in pediatric hematopoietic stem cell transplantation in China: a retrospective multicenter cohort study.
BMC pediatricsDefining Bayley Scales of Infant and Toddler Development Third Edition (BSITD-III) meaningful change and item relevance in children with neuronopathic MPS II: a caregiver interview-based study.
Orphanet journal of rare diseasesDyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.
Journal of pediatric endocrinology & metabolism : JPEMSafety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.
Molecular genetics and metabolismUncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
International journal of molecular sciencesGenomic autopsy in neonatal-onset mucopolysaccharidosis type VII: Key for diagnosis and future planning.
Pediatrics international : official journal of the Japan Pediatric SocietyFailure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.
Journal of inherited metabolic diseaseRecent and anticipated novel drug approvals (4Q 2025 through 3Q 2026).
American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System PharmacistsBreaking Barriers in Mucopolysaccharidosis Type II.
The New England journal of medicineAn Intravenous Brain-Penetrant Enzyme Therapy for Mucopolysaccharidosis II.
The New England journal of medicineIntravenous Delivery of a Gene Therapy Vector that Expresses an Antitransferrin Receptor 1 Nanobody-I2S Fusion Protein Rescued Central Nervous System Lysosomal Burden in Mucopolysaccharidosis II Mice.
Human gene therapyScreening saves hands: Detecting silent carpal tunnel syndrome in mucopolysaccharidosis.
Hand surgery & rehabilitationProgressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.
Neurology international[Choice of treatment strategy for corneal opacities in patients with mucopolysaccharidosis type VI].
Vestnik oftalmologiiOrofacial manifestations in mucopolysaccharidoses: a comprehensive clinical and radiographic evaluation of 35 pediatric cases.
Head & face medicineComprehensive genetic screening of in vitro fertilized embryos using preimplantation genetic testing for monogenic gene disorders via the Sanger sequencing technique.
Molecular biology reportsPeripapillary Scleral Deposits in Mucopolysaccharidosis Type II.
OphthalmologyClinical and molecular spectrum of mucopolysaccharidosis IVA in Iraqi children: Allele-specific genotype-phenotype trends and novel GALNS variants.
Molecular genetics and metabolism reportsRNF13 is a previously undescribed interactor of iduronate 2-sulfatase that modifies its glycosylation and maturation.
The FEBS journalComparative evaluation of liver-directed knockin strategies with viral and nonviral vectors in mouse inherited disease models.
Molecular therapy : the journal of the American Society of Gene TherapyMucopolysaccharidoses: A biochemical study under limited resources.
Molecular genetics and metabolism reportsClinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.
Orphanet journal of rare diseasesAdeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI.
PloS oneEarly screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case.
Intractable & rare diseases researchFemale Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.
JIMD reportsMucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.
Journal of clinical research in pediatric endocrinologyQuantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.
BioanalysisVascular complications and imaging-based cardiovascular risk assessment in Mucopolysaccharidoses: A systematic review.
Molecular genetics and metabolismBilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.
Case reports in ophthalmological medicineThe use of genistein and ambroxol may be an effective approach in correcting cellular dysfunctions of mucopolysaccharidosis-plus syndrome.
Mammalian genome : official journal of the International Mammalian Genome SocietyGuidance for Home Enzyme Replacement Therapy in Children and Adolescents Diagnosed with Mucopolysaccharidoses: A Scoping Review Protocol.
International journal of environmental research and public healthNeuroinflammation as a Novel Therapeutic Frontier for Sanfilippo Syndrome.
Children (Basel, Switzerland)Long-Term Liver-Targeted AAV8 Gene Therapy for Mucopolysaccharidosis IVA.
Current issues in molecular biologyAdvances in mucopolysaccharidosis research: the impact of mass spectrometry-based approaches.
Clinical proteomicsReclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.
International journal of neonatal screeningLong-term safety outcomes and patient preferences for home-based intravenous enzyme replacement therapy (ERT) in Pompe disease and Mucopolysaccharidosis Type I (MPS-I): final results of two-year observation.
Orphanet journal of rare diseasesEvaluation and follow-up of newborns screening positive for mucopolysaccharidosis II: Results from an international modified Delphi consensus.
Molecular genetics and metabolismAllogeneic hematopoietic stem cell transplantation modulates neurodevelopmental trajectories in mucopolysaccharidosis: a longitudinal study of subtype-specific outcomes and age-dependent efficacy.
Orphanet journal of rare diseasesClinical and genetic characteristics of mucopolysaccharidosis type VI according to the Russian registry.
World journal of clinical pediatricsClinical characteristics and real-world outcomes in patients with mucopolysaccharidosis II over 18 years: final report of the Hunter Outcome Survey.
Molecular genetics and metabolismCongenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia.
International journal of molecular sciencesGenotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Diagnostics (Basel, Switzerland)Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report.
A&A practiceCollagen fibril formation at the plasma membrane occurs independently from collagen secretion.
Wellcome open researchMucopolysaccharidosis III B: A Case Report.
Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & PractitionersChallenges and opportunities with providing genetic testing and counseling for mucopolysaccharidosis type II in Kenya.
Orphanet journal of rare diseasesAnaesthetic management of a preadolescent child with Mucopolysaccharidosis type II (Hunter's syndrome) for insertion of a ventriculoperitoneal shunt.
BMJ case reportsEffect of Early Hematopoietic Stem Cell Transplantation on Carpal Tunnel Syndrome Surgery in Patients With Hurler Syndrome.
The Journal of hand surgeryTiny sensors, big hope: ML-optimized nanodiagnostics for TBI in Sanfilippo syndrome.
Annals of medicine and surgery (2012)Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).
Orphanet journal of rare diseasesSafety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.
Orphanet journal of rare diseasesDeveloping a National Network for Leukodystrophy Research and Care in Canada: The CARELeuko Initiative.
Neurology. GeneticsNatural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Molecular genetics and metabolism reportsCraniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review.
CureusA Rare Case of Hunter Syndrome (Mucopolysaccharidosis II) With Bilateral Maculopathy Associated With Rod-Cone Dystrophy.
CureusThe Neuroimmune Landscape of the Lysosomal Storage Disorder Sanfilippo Syndrome.
BioEssays : news and reviews in molecular, cellular and developmental biologyLysosomal Network Defects in Early-Onset Parkinson's Disease Patients Carrying Rare Variants in Lysosomal Hydrolytic Enzyme Genes.
International journal of molecular sciencesRecent advances in mucopolysaccharidosis IVA treatment.
Orphanet journal of rare diseasesCase report of neuronopathic mucopolysaccharidosis type II: Early intracerebroventricular enzyme replacement therapy and hematopoietic cell transplantation with developmental outcomes up to 5 years of age.
Molecular genetics and metabolism reportsUnmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.
Molecular genetics and metabolismClinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.
Molecular biology reportsMucopolysaccharidosis VI: Therapeutic strategies and perspectives.
Molecular genetics and metabolismCervicothoracic Kyphosis and Spinal Cord Compression in Hurler Syndrome.
Journal of pediatric orthopedicsCase Report: Prenatal Diagnosis of Mucopolysaccharidosis IVA With Slow Growth of Long Bones: Identification of Novel Mutations in the GALNS Gene.
Congenital anomaliesThree-dimensional human mucopolysaccharidosis IVA chondrocyte culture reveals significant impairments in the lysosomal-mitochondrial crosstalk.
Scientific reportsExpanding the ethnic and clinical spectrum of the IDS c.1122C>T mutation: first report from Pakistan.
NeurogeneticsA case report on the treatment of autoimmune hemolytic anemia after CBT by daratumumab in a mucopolysaccharidosis type III patient.
MedicineUnveiling the hidden burden: challenges and spectrum of inborn errors of metabolism in LMICs.
Pediatric researchDomain-substituted IGF2 tag modulates targeting of lentiviral gene therapy for Hunter syndrome.
EMBO molecular medicineNon-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.
Molecular therapy : the journal of the American Society of Gene TherapyComprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador.
Diagnostics (Basel, Switzerland)Parental psychosocial outcomes after a positive newborn screen for a lysosomal storage disorder.
Molecular genetics and metabolismNeuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Radiology case reportsNovel Phenotypic Insights into the IDS c.817C>T Variant in Mucopolysaccharidosis Type II from Newborn Screening Cohorts.
International journal of neonatal screeningCase report: Successful treatment of a patient presenting with a very rare association of acute lymphoblastic leukemia and mucopolysaccharidosis type IVA.
Frontiers in pediatricsA pictorial essay of thoracic wall diseases: multiple pathologies in the same anatomical site.
Insights into imagingRescue of neurologic disease in mucopolysaccharidosis type II mice via AAV-mediated liver delivery of brain-penetrating iduronate-2-sulfatase.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsDefining lung pathogenesis in a murine model of mucopolysaccharidosis Type I by proteomic analysis.
Molecular genetics and metabolism[A case of mucopolysaccharidosis type ⅢA with ventricular hypertrophy as the first clinical presentation].
Zhonghua xin xue guan bing za zhiUrine proteome uncovers common mechanisms between mucopolysaccharidosis types I and II.
Clinical biochemistrySafety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).
Frontiers in pharmacologySleep disorder assessment in children and adolescents with neurodevelopmental disorders.
Jornal de pediatriaAnalysis of Orofacial Changes in Children and Adolescents With Mucopolysaccharidosis and Osteogenesis Imperfecta.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationAnalysis of fatal outcomes of patients with mucopolysaccharidosis type II according to the Russian mucopolysaccharidosis registry.
World journal of clinical pediatricsReduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice.
The Journal of clinical investigationClinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.
Orphanet journal of rare diseasesStriking a delicate balance: ethical considerations and promising advances in timely diagnosis and patient safety for Hunter syndrome.
JPMA. The Journal of the Pakistan Medical AssociationHand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Molecular genetics and metabolism reportsEfficacy and safety of a biosimilar laronidase versus the reference laronidase in patients with mucopolysaccharidosis type I.
Scientific reportsTriclabendazole suppresses cellular levels of glycosaminoglycan-A potential therapeutic agent for mucopolysaccharidoses and related diseases.
iScienceNeonatal gene therapy effectively prevents disease manifestations in a murine model of Mucopolysaccharidosis type I.
Molecular therapy. Methods & clinical developmentUltrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy.
Journal of children's orthopaedicsThe first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature.
BMC neurologySite-specific characterization of mannose-6-phosphate-containing N-glycans on recombinant idursulfase beta for lysosomal targeting in Hunter syndrome therapy.
International journal of biological macromoleculesGene therapy for lysosomal storage diseases.
Brain & developmentMucopolysaccharidosis type IVA and severe hidradenitis suppurativa: A case series.
JAAD case reportsExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.
Molecular syndromologyComparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records.
Scientific reportsWhole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD.
Molecular biology reportsCellular and molecular changes in mucopolysaccharidosis-plus syndrome caused by a homozygous c.599G > C (p.Arg200Pro) variant of the VPS33A gene.
Journal of applied geneticsHeparan sulfate binding protein treatment ameliorates neuropathology and behavioral abnormalities in mucopolysaccharidosis IIIB mice.
Cell death discoveryARSK-Related Mucopolysaccharidosis Type 10.
American journal of medical genetics. Part ADistinct Brain Magnetic Resonance Imaging (MRI) Findings Across Mucopolysaccharidosis Types: Novel Insights.
Journal of child neurologyIntegrase-Deficient Lentiviral Vector as a Platform for Efficient CRISPR/Cas9-Mediated Gene Editing for Mucopolysaccharidosis IVA.
International journal of molecular sciencesRecombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology.
PloS oneChildren and Adolescents with Mucopolysaccharidosis and Osteogenesis Imperfecta: The Dentistry on the Multiprofessional Team.
Journal of personalized medicineJapanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy.
Orphanet journal of rare diseasesIron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses.
Molecular genetics and metabolism reportsFunctional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.
Human mutationIn vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model.
Molecular therapy. Methods & clinical developmentReal-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time.
Genetics in medicine openA novel image-based classification system for atlantoaxial deformity caused by mucopolysaccharidosis type IVA: an efficacy evaluation.
Journal of orthopaedic surgery and researchA case of recurrent spinal cord compression at craniocervical junction due to type IV mucopolysaccharidosis.
Surgical neurology internationalImaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.
Radiology case reportsLysosomal storage disorders in nonimmune hydrops fetalis diagnosed by exome sequencing.
Orphanet journal of rare diseasesGenetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
American journal of medical genetics. Part AHow not to Misdiagnose the Mild Forms of Mucopolysaccharidosis and Juvenile Idiopathic Arthritis.
Current pediatric reviewsCRISPR/Cas9-mediated promoterless gene targeting reduces lysosome storage in MPS VII mice.
Science China. Life sciencesUnmet needs of adults living with mucopolysaccharidosis II: data from the Hunter Outcome Survey.
Orphanet journal of rare diseasesA new route for the preparation of iduronate-2-sulfate glycosides: A new substrate for iduronate-2-sulfatase for screening and diagnosis of Mucopolysaccharidosis-II.
Carbohydrate researchSynthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA.
Carbohydrate researchPrognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.
Pharmaceuticals (Basel, Switzerland)Nebulized and intravenous enzyme replacement therapy in mice with mucopolysaccharidosis type II.
PloS oneAnalysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.
International journal of neonatal screeningLong-Read Sequencing Expands the Genotypic Spectrum of Patients With Mucopolysaccharidosis Type II.
Journal of inherited metabolic diseaseEfficient synthesis of fluorogenic substrates for mucopolysaccharidosis (MPS) IIIA and IIIB via aromatic α-glycosylation with thioglycosyl donors.
Organic & biomolecular chemistryAcute transient psychotic episode as presenting sign of Mucopolysaccharidosis III A (Sanfilippo Syndrome type A) in an adolescent patient.
European child & adolescent psychiatryLong-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation.
Clinical transplantationAssessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.
Journal of human geneticsGeneration of a cellular model for mucopolysaccharidosis type IVA (MPS IVA) (AOUMEYi003-A) from a patient carrying compound heterozygous mutations p.G116V and p.G290S in the GALNS gene.
Stem cell researchMucopolysaccharidosis Type IIIB With Pancytopenia: A Case Report and Hematological Correlations in Mice.
Clinical geneticsExploring Multivalent Architectures for Binding and Stabilization of N-Acetylgalactosamine 6-Sulfatase.
Molecules (Basel, Switzerland)Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.
International journal of molecular sciencesMucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.
BiomedicinesHeliox in the management of respiratory failure in a Morquio A syndrome patient with trachea narrowing.
Respiratory medicine case reportsEfficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort.
Genetics in medicine : official journal of the American College of Medical GeneticsMucopolysaccharidosis type IVA (Morquio A) in twins masquerading as distal renal tubular acidosis.
BMJ case reportsA Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.
Cureus[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].
Zhonghua er ke za zhi = Chinese journal of pediatricsHigh Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
European journal of neurologyFertility preservation by ovarian tissue cryopreservation of children in China--umbilical single-incision surgery and perioperative experience.
Frontiers in endocrinologyClinically relevant pseudoexons of the GALNS gene and their antisense-based correction.
Molecular medicine (Cambridge, Mass.)Long-term enzyme replacement therapy: Findings from the mucopolysaccharidosis VI clinical surveillance program after 15 years follow-up.
Molecular genetics and metabolismDescription of ocular pathologies in patients with mucopolisacaridosis type iva (Morquio) in medellin, Colombia.
Ophthalmic geneticsCRISPR/nCas9-Edited CD34+ Cells Rescue Mucopolysaccharidosis IVA Fibroblasts Phenotype.
International journal of molecular sciencesCombining clinically benign IDUA variants in cis reduces enzymatic activity of the resulting enzyme within the pathogenic range.
Molecular genetics and metabolismRare Presentation of Attenuated Mucopolysaccharidosis Type IIIA as Isolated Retinitis Pigmentosa.
Journal of vitreoretinal diseasesEffect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.
Genome medicineLongitudinal clinical and imaging analysis of hydrocephalus in a single-center study in 57 patients with mucopolysaccharidosis type IH (Hurler syndrome).
Journal of neurosurgery. Pediatrics[MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia.
Turk gogus kalp damar cerrahisi dergisiEfficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials.
Orphanet journal of rare diseasesSafety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.
Molecular genetics and metabolismSystematic Analysis of Multiple Imaging Modalities in Infants Diagnosed with Mucopolysaccharidosis by Newborn Screening.
Diagnostics (Basel, Switzerland)Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.
Molecular genetics and metabolism reportsSubstrate reduction using a glucosamine analogue in Drosophila melanogaster and mouse models of Sanfilippo syndrome.
Molecular genetics and metabolismFive years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon.
Molecular genetics and metabolism reportsAnalysis of genomic ancestry and characterization of a new variant in MPS type VII.
Orphanet journal of rare diseasesRole of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies.
Journal of inherited metabolic diseaseN-glycan-modified α-L-iduronidase produced by transgenic silkworms ameliorates clinical signs in a Japanese macaque with mucopolysaccharidosis I.
Communications medicineClinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.
Cellular and molecular biology (Noisy-le-Grand, France)Evaluation of AAV vectors with tissue-specific or ubiquitous promoters in a mouse model of mucopolysaccharidosis type IVA.
Molecular therapy. Methods & clinical developmentAAV gene therapy for mucopolysaccharidoses.
Med (New York, N.Y.)Disturbances in mitochondrial quality control and mitochondria-lysosome contact underlie the cerebral cortex and heart damage of mucopolysaccharidosis type II mice.
Metabolic brain diseaseHypersensitivity Reaction and a Single-Bag Rapid Desensitization to Idursulfase.
American journal of medical genetics. Part ASingle-cell RNA sequencing reveals important role of monocytes and macrophages during mucopolysaccharidosis treatment.
Scientific reportsCorrigendum to "Enhanced osteoblastic differentiation of parietal bone in a novel murine model of mucopolysaccharidosis type II" [Molecular Genetics and Metabolism Reports Vol. 37, December 2023, 101021].
Molecular genetics and metabolism reportsAssociações
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É um grupo de distúrbios hereditários de depósito lisossômico caracterizados pelo acúmulo de mucopolissacarídeos no corpo. Esse acúmulo decorre de falhas em enzimas necessárias para o metabolismo celular.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
8 publicações do grafo RarasNet (PubMed) · 7 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (s.d.). Mucopolissacaridose. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/mucopolissacaridose
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Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Mucopolissacaridose
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