A mucopolissacaridose tipo VII (MPS VII) é uma doença de armazenamento lisossômico muito rara pertencente ao grupo das mucopolissacaridoses.
Introdução
O que você precisa saber de cara
A mucopolissacaridose tipo VII (MPS VII) é uma doença de armazenamento lisossômico muito rara pertencente ao grupo das mucopolissacaridoses.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 25 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 82 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays an important role in the degradation of dermatan and keratan sulfates
Lysosome
Mucopolysaccharidosis 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.
Medicamentos aprovados (FDA)
5 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
167 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 668 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
5 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 tipo 7
Centros de Referência SUS
21 centros habilitados pelo SUS para Mucopolissacaridose tipo 7
Centros para Mucopolissacaridose tipo 7
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
NUPAD / Faculdade de Medicina UFMG
Av. Prof. Alfredo Balena, 189 - 5 andar - Centro, Belo Horizonte - MG, 30130-100 · CNES 2183226
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital de Clínicas da Universidade Federal de Pernambuco
Av. Prof. Moraes Rego, 1235 - Cidade Universitária, Recife - PE, 50670-901 · CNES 2561492
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital Universitário Onofre Lopes (HUOL)
Av. Nilo Peçanha, 620 - Petrópolis, Natal - RN, 59012-300 · CNES 2408570
Atenção Especializada
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Instituto da Criança e do Adolescente (ICr-HCFMUSP)
Av. Dr. Enéas Carvalho de Aguiar, 647 - Cerqueira César, São Paulo - SP, 05403-000 · CNES 2081695
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
15 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.263
Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.
Background/Objectives: To date, few studies have reported the use of neurophysiological testing to assess the long-term progression of functional changes in median and ulnar nerve conduction in children and adolescents with mucopolysaccharidosis (MPS). This case series study aimed to perform an electroneurographic (ENG) assessment of the median and ulnar nerves in three young patients with MPS treated with enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) over a five-year observation period. Methods: Bilateral electroneurography of the motor and sensory fibers in the median and ulnar nerves, recording compound muscle action potential (CMAP) and sensory nerve action potential (SNAP), was performed twice in 5-, 7-, and 19-year-old males at two time points: before and five years after the application of ERT and HSCT. Results: In three MPS patients with Hurler or Hunter syndrome, ENG studies similarly demonstrated decreased amplitudes and prolonged distal latencies in their CMAP recordings, confirming the bilateral progression of axonal degeneration and demyelinating changes in the distal parts of the median nerves. The SNAP recordings revealed more severe degenerative processes of similar types in the sensory fibers of the median nerves. Nerve conduction studies in the ulnar nerve fibers bilaterally revealed analogous pathologies, but with a lesser degree of progression. Conclusions: This study confirms the progression of axonal degeneration and demyelinating changes in the distal parts of the median nerves, which were associated with decreased amplitudes and prolonged distal latencies in the CMAP recordings of the MPS patients. More expressed degeneration processes of a similar type were found in the sensory fibers of the median nerves. Ulnar nerve pathologies of neural conduction are less advanced in patients with Hurler and Hunter syndromes. It seems advisable to implement neurophysiological diagnostics as soon as possible to specify surgical or conservative therapy, which is crucial for maintaining hand function in the case of progressive peripheral neuropathies in patients with MPS. The timing of the treatment and the patient's age may be factors influencing the effectiveness of treatment.
Comparative evaluation of liver-directed knockin strategies with viral and nonviral vectors in mouse inherited disease models.
CRISPR-Cas9-mediated gene knockin has emerged as a promising strategy for early-onset genetic disease intervention. However, the therapeutic efficacy and editing outcomes of different knockin strategies remain incompletely understood. Here, we systematically evaluated three major liver-directed knockin strategies, namely homology-directed repair (HDR), homology-independent targeted integration (HITI), and homology-mediated end joining (HMEJ), using neonatal mouse models of mucopolysaccharidosis type I and hemophilia B. Although all three approaches effectively rescued disease phenotypes, we observed distinct editing outcomes. Notably, the HMEJ approach, delivered via a combined adeno-associated virus-lipid nanoparticle (AAV-LNP) system, exhibited superior integration efficiency (5.8%-5.9%) and fidelity (97%-98%) compared with HDR and HITI. In contrast, whole-genome sequencing indicated that HITI induced a higher risk of random AAV donor integration than HDR or HMEJ. Furthermore, long-read sequencing analyses revealed that the frequencies of inverted terminal repeat (ITR)-mediated transgene integration differed between the 5' and 3' genomic junctions among the three strategies. Specifically, in HDR- and HMEJ-treated mice, ITR-mediated integration events were 7.7- to 19.7-fold more common at the 3' junctions than at the 5' junctions. These findings highlight the comprehensive advantages of the AAV-LNP-mediated HMEJ approach for liver-directed knockin therapy and suggest its strong potential for clinical translation.
Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.
Patients with mucopolysaccharidosis type I Hurler (MPSIH) experience multisystem clinical manifestations, which are only partially addressed by allogeneic hematopoietic stem cell transplantation (allo-HSCT). This study evaluated outcomes from a lentiviral vector-mediated hematopoietic stem and progenitor cell-gene therapy (HSPC-GT) trial (NCT03488394) in eight MPSIH patients followed up to 4 years post-treatment. Key findings included corneal clouding, hearing loss (HL), carpal tunnel syndrome (CTS), and cardiac evaluations. A retrospective comparison with an external cohort of nine MPSIH patients undergoing allo-HSCT was performed. All patients are alive at last follow-up, show stable engraftment without graft failure, insertional oncogenesis, or immune responses to the transgene. Notably, at last follow-up 3/8 HSPC-GT patients experienced corneal clouding resolution, while all allo-HSCT patients maintained moderate corneal clouding; 4/8 HSPC-GT patients showed normal hearing function at last follow-up due to improvement (n = 3) or stabilization (n = 1); 7/9 allo-HSCT patients had mild or moderate HL at baseline, while 2/9 showed moderate HL at last follow-up. No HSPC-GT patients required surgery for CTS developed after HSPC-GT, while 7/9 patients needed such surgery after allo-HSCT. No HSPC-GT patients developed severe cardiomyopathy or valvular disease, while in the HSCT cohort 4/9 patients experienced progression of valvular insufficiency although not requiring valve replacement. Our results indicate a favorable effect of HSPC-GT on MPSIH multisystemic manifestations up to 4 years after treatment; long-term, prospective comparative studies are warranted for definitive conclusions.
Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA).
Morquio syndrome A, also known as mucopolysaccharidosis type IVA (MPS IVA), is a lysosomal storage disorder resulting from mutations in the gene responsible for N-acetylgalactosamine-6-sulfatase. The deficiency of this enzyme impairs the degradation of glycosaminoglycans, particularly chondroitin 6-sulfate and keratan sulfate. This research uses a variety of computational techniques for analyzing the GALNS variants mainly causing child death and to provide better healthcare. The variants were collected from research sources, such as PubMed, ResearchGate, and ScienceDirect, along with databases like HGMD, ClinVar, and UniProt. The analysis of the conservation, pathogenicity, and stability of the variations was conducted utilizing algorithms such as ConSurf, PredictSNP, and iStable. Structural analysis was carried out using the PDB databank and PyMOL software. Molecular docking was used to study the interaction of native and variant GALNS proteins with Ezetimibe. GROMACS was used to simulate the behavior of the GALNS protein with variants and Ezetimibe binding in docked complexes for over 100 ns. A total of 345 SNP variants were retrieved, of which D40H, C79R, and C79L variants were identified to be highly deleterious after conservation (75 SNPs), pathogenicity (5 SNPs), and biophysical and stability (3 SNPs) analysis. During docking, the native protein demonstrated a strong binding affinity of -8.54 kcal/mol for the drug. The C79R variant displayed a binding affinity of -8.41 kcal/mol, while the C79L and D40H variants showed affinities of -7.07 and -7.92 kcal/mol, respectively. MD simulations of the native and variant structures showed similar ligand binding flexibility and stability, confirmed by RMSD, RMSF, H-bond, and gyration plots. The increased binding affinity and stability of both complexes suggest that Ezetimibe has comparable therapeutic effects for both the native and variant forms. This work provides detailed structural and dynamic insights into the GALNS protein, paving the way for further research and new treatments for Morquio syndrome A.
T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.
Growing-spine surgery aims to promote thoracic growth in skeletally immature patients by achieving adequate T1-T12 length. Surgical decision-making often relies on assumptions regarding spinal length thresholds and their relationships to cardiopulmonary function. This study aimed to characterize thoracic (T1-T12) and total spine (T1-S1) lengths in skeletally mature patients with skeletal dysplasias, with a primary focus on achondroplasia, and to evaluate whether these measurements were associated with cardiopulmonary comorbidities. A retrospective review was conducted of skeletally mature patients with confirmed skeletal dysplasia evaluated at a single institution between 2018 and 2023. Patients with scoliosis >30 degrees or prior spinal deformity surgery were excluded. T1-T12 and T1-S1 lengths were measured using the Pediatric Spine Study Group (PSSG) methodology. Patients with achondroplasia were analyzed as the primary cohort, with patients with short-trunk skeletal dysplasia, including spondyloepiphyseal dysplasia (SED) and mucopolysaccharidosis type IV (MPS IV), serving as a contextual comparison group. Of 68 patients aged (mean and SD) 37±16.7 y, 58 had achondroplasia and 10 had other skeletal dysplasias. In the cohort, mean T1-T12 and T1-S1 lengths were 26.2 and 43.3 cm, respectively. Patients with achondroplasia demonstrated greater T1-T12 (27.8±2.8 cm vs. 21.1±5.0 cm; P<0.001) and T1-S1 (46.1±4.4 cm vs. 35.6±7.1 cm; P<0.001) spinal lengths than short-trunk skeletal dysplasia patients. Cardiopulmonary comorbidities were present in 6 patients (9%) and were not clearly associated with spinal length. Skeletally mature patients with skeletal dysplasias, particularly achondroplasia, can achieve T1-T12 and T1-S1 lengths within expected adult ranges. These findings provide reference data for spinal length at maturity in patients with achondroplasia, with contextual comparison to related short-trunk skeletal dysplasias, and may help inform expectations regarding thoracic growth and cardiopulmonary risk in the context of growth-friendly surgical treatment. Level IV.
Publicações recentes
Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB.
Management of Progressive Superolateral Left Hip Pain in a 28-year-old Male with Mucopolysaccharidosis II (MPS II).
Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges.
Microwave-Assisted Synthesis and Enzyme Stabilization Study of N‑Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy.
Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.
📚 EuropePMC3.079 artigos no totalmostrando 200
Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA).
ACS omegaNeurophysiological 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 internationalT1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.
Journal of pediatric orthopedics[Safety, tolerability, and pharmacokinetics of verenafusp alfa in healthy volunteers: results of an open-label multicohort phase I study].
Terapevticheskii arkhivCarpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.
The Journal of hand surgery, European volumeA Rare Compound Heterozygous NAGLU Gene Mutation in Two Siblings with Mucopolysaccharidosis type Iiib.
Iranian journal of pathologyUnveiling Mucopolysaccharidosis IIIC in Brazil: Diagnostic Journey and Clinical Features of Brazilian Patients Identified Through the MPS Brazil Network.
Diseases (Basel, Switzerland)Comparative 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 reportsAdeno-associated vector corneal gene therapy reverses corneal clouding in a feline model of mucopolysaccharidosis VI.
PloS oneLong-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 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 metabolismGenotype-Phenotype Correlations and Shifting Diagnosis Age in Turkish Mucopolysaccharidosis Type II Patients: A Multicenter Retrospective Study.
Diagnostics (Basel, Switzerland)Effect of Early Hematopoietic Stem Cell Transplantation on Carpal Tunnel Syndrome Surgery in Patients With Hurler Syndrome.
The Journal of hand surgerySafety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.
Orphanet journal of rare diseasesNatural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.
Molecular genetics and metabolism reportsNon-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 TherapyNeuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Radiology case reportsSafety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).
Frontiers in pharmacologyHand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review.
Molecular genetics and metabolism reportsExploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants.
Molecular syndromologyRecombinant human alpha-N-acetylglucosamine-6-sulfatase delivered to Sanfilippo D mice with repeated intracerebroventricular injections corrects CNS pathology.
PloS oneReal-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time.
Genetics in medicine openGenetic Diseases Mimicking Rheumatic Disorders: Insights From Southeastern Turkey.
American journal of medical genetics. Part APrognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.
Pharmaceuticals (Basel, Switzerland)[Screening of high risk children for lysosomal storage diseases and analysis of disease spectrum].
Zhonghua er ke za zhi = Chinese journal of pediatricsSafety of anesthesia in mucopolysaccharidoses - A comparative retrospective cohort study on more than 600 cases.
Molecular genetics and metabolismClinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.
Cellular and molecular biology (Noisy-le-Grand, France)Mucopolysaccharidosis Type IIIA Presenting as Hypertrophic Cardiomyopathy.
Circulation. Heart failurePediatric Patients Undergoing Total Hip Arthroplasty: A Single-Center Experience at Average 5.3-Year Follow-Up.
The Journal of arthroplastyEvaluating Patients With Mucopolysaccharidosis Type III: A Scoping Review on Diagnostic and Follow-Up Approaches.
Journal of applied research in intellectual disabilities : JARIDTreatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered Approach.
JIMD reportsSurvey of Patients With Sanfilippo Type a (MPS IIIA) Disease Diagnosed by the MPS Brazil Network.
American journal of medical genetics. Part AD1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders.
Molecular psychiatryHematopoietic stem cell transplantation in inborn errors of metabolism-a retrospective analysis on behalf of the pediatric disease working party from the Brazilian Society of Bone Marrow Transplantation and Cellular Therapy.
Bone marrow transplantationEpidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.
Turkish archives of pediatricsMulti-omics analyses of early-onset familial Alzheimer's disease and Sanfilippo syndrome zebrafish models reveal commonalities in disease mechanisms.
Biochimica et biophysica acta. Molecular basis of diseaseHuman induced pluripotent stem cell line (PNUSCRi005-A) generated from severe type of Hunter syndrome patient carrying exonic deletion (exon 4-7 del) in in human iduronate 2-sulfatase gene.
Stem cell researchIntrathecal or intravenous AAV9-IDUA/RGX-111 at minimal effective dose prevents cardiac, skeletal and neurologic manifestations of murine MPS I.
Molecular therapy. Methods & clinical developmentTracheostomy in children with mucopolysaccharidosis: A systematic review.
International journal of pediatric otorhinolaryngologyImplementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.
Genetics in medicine : official journal of the American College of Medical GeneticsOral Problems in Brazilian Individuals with Rare Genetic Diseases That Affect Skeletal Development.
International journal of environmental research and public healthBody Height of MPS I and II Patients after Hematopoietic Stem Cell Transplantation: The Impact of Dermatan Sulphate.
Diagnostics (Basel, Switzerland)Prevalence and natural history of gibbus deformity in patients with Hurler syndrome.
NeuroradiologyGuided growth surgery for angular deformity of the knee: one centres experience.
Irish journal of medical scienceThe importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).
Journal of community geneticsLong-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II.
Journal of inherited metabolic diseaseRole of Botulinum Toxin in Treatment of Secondary Dystonia: A Case Series and Overview of Literature.
ToxinsAAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo.
Journal of extracellular vesiclesSafe and effective liver-directed AAV-mediated homology-independent targeted integration in mouse models of inherited diseases.
Cell reports. MedicineSystemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease.
EMBO molecular medicineClinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.
Molecular syndromologyNewborn Screening for 6 Lysosomal Storage Disorders in China.
JAMA network openDisturbances in mitochondrial bioenergetics and control quality and unbalanced redox homeostasis in the liver of a mouse model of mucopolysaccharidosis type II.
Molecular and cellular biochemistryNatural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome.
Journal of neurosurgery. PediatricsDisease progression in Sanfilippo type B: Case series of Brazilian patients.
Genetics and molecular biologyAdenotonsillectomy for the treatment of OSA in children with mucopolysaccharidosis: A systematic review.
Sleep medicinePsychobehavioral factors and family functioning in mucopolysaccharidosis: preliminary studies.
Frontiers in public healthExperiences of Parents of Children with Mucopolysaccharidosis in Türkiye: A Qualitative Study.
Journal of pediatric nursingClinical characteristics and somatic burden of patients with mucopolysaccharidosis II with or without neurological involvement: An analysis from the Hunter Outcome Survey.
Molecular genetics and metabolism reportsThe importance of skeletal x-ray screening for dysostosis multiplex in the early diagnosis of mucopolysaccharidosis.
Clinical imagingIncidence of the Mucopolysaccharidoses in Tunisia, 1999 - 2021.
Clinical laboratoryIntracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II: Final report of 5-year results from a Japanese open-label phase 1/2 study.
Molecular genetics and metabolismSafety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Orphanet journal of rare diseasesEnhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts.
International journal of molecular sciencesClinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients.
American journal of medical genetics. Part AIncidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome.
Transplantation and cellular therapyFirst Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.
The Journal of pediatricsHinge abduction hip dysplasia in (morquio a syndrome) treated by proximal femoral valgization osteotomy: a rare case report.
Annals of medicine and surgery (2012)Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation.
International journal of neonatal screeningPerspectives of adult patients with lysosomal storage diseases on the transition from pediatric to adult healthcare in Turkey.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie[Clinical characteristics of 111 cases with mucopolysaccharidosis ⅣA].
Zhonghua er ke za zhi = Chinese journal of pediatricsFocal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA.
Annals of clinical and translational neurologyImplementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018.
International journal of neonatal screeningThe patients` perspective on home-based infusion: A longitudinal observational study in the German healthcare setting for patients with lysosomal storage disorders treated with enzyme replacement therapy.
Molecular genetics and metabolism reportsCharacterization of a HIR-Fab-IDS, Novel Iduronate 2-Sulfatase Fusion Protein for the Treatment of Neuropathic Mucopolysaccharidosis Type II (Hunter Syndrome).
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyMucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.
Metabolic brain diseaseMucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans-A Diagnostic Prediction Model.
BiomoleculesA Neonate with Mucopolysaccharidosis Type VII with Intractable Ascites.
AJP reportsNeutrophils and monocytes with increased azurophilic granules resembling toxic changes in mucopolysaccharidosis type VI.
BloodPhenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.
Frontiers in geneticsClinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq.
Cellular and molecular biology (Noisy-le-Grand, France)Cranio-cervical decompression associated with non-instrumented occipito-C2 fusion in children with mucopolysaccharidoses: Report of twenty-one cases.
North American Spine Society journalObjectively measuring anterior segment alterations in the eyes of mucopolysaccharidoses: Its utility in early diagnosis of glaucoma.
Indian journal of ophthalmologyEffects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.
Biochemical and biophysical research communicationsTissue doppler echocardiographic evaluation of cardiac functions in children with mucopolysaccharidosis type III disease.
Nigerian journal of clinical practiceRadiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey.
Journal of clinical densitometry : the official journal of the International Society for Clinical DensitometryAnaesthetic Management in Mucopolysaccharidoses Patients: Clinical Experience in a Tertiary Hospital.
CureusEffectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial.
Orphanet journal of rare diseasesMutational spectrum of the iduronate-2-sulfatase gene in Mexican patients with Hunter syndrome.
European review for medical and pharmacological sciencesAdjunct diagnostic value of radiological findings in mucopolysaccharidosis type IVa-related thoracic spinal abnormalities: a pilot study.
Orphanet journal of rare diseasesNewborn Screening Program for Mucopolysaccharidosis Type II and Long-Term Follow-Up of the Screen-Positive Subjects in Taiwan.
Journal of personalized medicineThe Outcome of Allogeneic Hematopoietic Stem Cell Transplantation From Different Donors in Recipients With Mucopolysaccharidosis.
Frontiers in pediatricsPredictors of growth patterns in children with mucopolysaccharidosis I after haematopoietic stem cell transplantation.
JIMD reportsClinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA.
Molecular genetics and metabolism reportsLiver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
NEJM evidenceCardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
Orphanet journal of rare diseasesLongitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
The Journal of pediatricsReal-world patient data on immunity and COVID-19 status of patients with MPS, Gaucher, and Pompe diseases from Turkey.
Archives de pediatrie : organe officiel de la Societe francaise de pediatrieNatural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
Journal of personalized medicineCut-off values of neonatal lysosomal storage disease-related enzymes detected by tandem mass spectrometry.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciencesLong-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature.
CorneaSeparating gene clustering in the rare mucopolysaccharidosis disease.
Journal of applied geneticsAdipose deficiency and aberrant autophagy in a Drosophila model of MPS VII is corrected by pharmacological stimulators of mTOR.
Biochimica et biophysica acta. Molecular basis of diseaseSpinal cord compression in patients with mucopolysaccharidosis.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyMultiple-mouse magnetic resonance imaging with cryogenic radiofrequency probes for evaluation of brain development.
NeuroImageTiming is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair.
Molecular genetics and metabolism reportsInvestigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Journal of inherited metabolic diseaseMolecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion).
Human mutationAn observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
Molecular genetics and metabolismSeven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal.
Molecular therapy. Methods & clinical developmentReal world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study.
Molecular genetics and metabolism reportsMucopolysaccharidosis patients have reduced functional capacity.
Pediatric pulmonologyGastrointestinal Manifestations in Mucopolysaccharidosis Type III: Review of Death Certificates and the Literature.
Journal of clinical medicineLong-term safety and clinical outcomes of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.
Molecular genetics and metabolismOtorhinolaryngological Management in Taiwanese Patients with Mucopolysaccharidoses.
International journal of medical sciencesMucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt.
HeliyonLong-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.
HeliyonAirway Abnormalities in Adult Mucopolysaccharidosis and Development of Salford Mucopolysaccharidosis Airway Score.
Journal of clinical medicineElectroclinical Features of Epilepsy in Mucopolysaccharidosis III: Outcome Description in a Cohort of 15 Italian Patients.
Frontiers in neurologyA review of the clinical outcomes in idursulfase-treated and untreated Filipino patients with mucopolysaccharidosis type II: data from the local lysosomal storage disease registry.
Orphanet journal of rare diseasesGlobal epidemiology of mucopolysaccharidosis type III (Sanfilippo syndrome): an updated systematic review and meta-analysis.
Journal of pediatric endocrinology & metabolism : JPEMTotal Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.
Case reports in orthopedicsStructure of the murine lysosomal multienzyme complex core.
Science advancesLongitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB.
Molecular genetics and metabolismEvaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.
American journal of medical genetics. Part AImpact of intracerebroventricular enzyme replacement therapy in patients with neuronopathic mucopolysaccharidosis type II.
Molecular therapy. Methods & clinical developmentEffect of small molecule eRF3 degraders on premature termination codon readthrough.
Nucleic acids researchPreconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.
Journal of community geneticsHip pathologies in mucopolysaccharidosis type III.
Journal of orthopaedic surgery and researchDisentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Journal of medical geneticsTracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.
Pediatric radiologyLong term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).
Orphanet journal of rare diseasesThalidomide as treatment of crohn-like disease occurred after allogeneic hematopoietic stem cell transplantation in a pediatric patient.
Pediatric transplantationLysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease.
Clinical biochemistryImprovement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.
Archives of disease in childhoodMucolipidoses Overview: Past, Present, and Future.
International journal of molecular sciencesLower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.
International journal of molecular sciencesNatural history of cognitive development in neuronopathic mucopolysaccharidosis type II (Hunter syndrome): Contribution of genotype to cognitive developmental course.
Molecular genetics and metabolism reportsA genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis.
American journal of medical genetics. Part C, Seminars in medical geneticsIncidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.
Molecular genetics and metabolism reportsEvidence for inflammasome activation in the brain of mucopolysaccharidosis type II mice.
Metabolic brain disease[Identification of a novel splicing variant of IDS gene in a pedigree affected with type II glycosaminoglycan product storage disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysis.
Journal of inherited metabolic diseaseOcular Tolerability and Immune Response to Corneal Intrastromal AAV-IDUA Gene Therapy in New Zealand White Rabbits.
Molecular therapy. Methods & clinical developmentThe mutational spectrum of hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients.
BMC medical geneticsThe combined use of enzyme activity and metabolite assays as a strategy for newborn screening of mucopolysaccharidosis type I.
Clinical chemistry and laboratory medicineHip morphology in mucopolysaccharidosis type IVA through radiograph, magnetic resonance imaging and arthrogram assessment.
International orthopaedicsSafety and efficacy of idursulfase in the treatment of mucopolysaccharidosis II (Hunter syndrome): a post-marketing study in Japan.
Expert opinion on drug safetyNewborn screening of mucopolysaccharidoses: past, present, and future.
Journal of human geneticsMechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.
International journal of molecular sciencesNon-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene.
Iranian journal of child neurologyLysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.
Prenatal diagnosisTwo-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
International journal of neonatal screeningAAVrh10 Vector Corrects Disease Pathology in MPS IIIA Mice and Achieves Widespread Distribution of SGSH in Large Animal Brains.
Molecular therapy. Methods & clinical developmentImpact of chemical modification of sulfamidase on distribution to brain interstitial fluid and to CSF after an intravenous administration in awake, freely-moving rats.
Molecular genetics and metabolism reportsImplementation and results of a risk-sharing scheme for enzyme replacement therapy in lysosomal storage diseases.
Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia HospitalariaCharacterization of disease-specific chondroitin sulfate nonreducing end accumulation in mucopolysaccharidosis IVA.
GlycobiologyIdentification and Functional Characterization of IDS Gene Mutations Underlying Taiwanese Hunter Syndrome (Mucopolysaccharidosis Type II).
International journal of molecular sciencesIntrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.
Molecular genetics and metabolismAirway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.
Paediatric anaesthesiaPathway to diagnosis and burden of illness in mucopolysaccharidosis type VII - a European caregiver survey.
Orphanet journal of rare diseasesAuditory Characteristics in Patients With Mucopolysaccharidosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyRelationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.
Diagnostics (Basel, Switzerland)[Cardiovascular findings and effects of enzyme replacement therapy in patients with mucopolysaccharidosis type VI].
Turk Kardiyoloji Dernegi arsivi : Turk Kardiyoloji Derneginin yayin organidirThe effectiveness of enzyme replacement therapy on cardiac findings in patients with mucopolysaccharidosis.
Journal of pediatric endocrinology & metabolism : JPEMAssessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.
Journal of patient-reported outcomes"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.
Molecular genetics & genomic medicineFunctional independence of Taiwanese patients with mucopolysaccharidoses.
Molecular genetics & genomic medicineCardiac characteristics and natural progression in Taiwanese patients with mucopolysaccharidosis III.
Orphanet journal of rare diseasesTargeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.
Molecular therapy : the journal of the American Society of Gene TherapyTargeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
International journal of molecular sciencesEarly disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking α-synuclein.
Neuropathology and applied neurobiologyAssociation of Mucopolysaccharidosis Type 4A and Bartter Syndrome.
Iranian journal of kidney diseasesHematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow TransplantationCardiac disease in mucopolysaccharidosis type III.
Journal of inherited metabolic diseaseIntrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
Molecular genetics and metabolismHematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter.
Molecular genetics and metabolismShort stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.
BMC endocrine disordersA retrospective comparison of propofol to dexmedetomidine for pediatric magnetic resonance imaging sedation in patients with mucopolysaccharidosis type II.
Paediatric anaesthesiaA model of mucopolysaccharidosis type IIIB in pigs.
Biology openUnveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis.
Journal of translational medicineMucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Human mutationHaematopoietic stem cell transplantation for mucopolysaccharidosis type VII: A case report.
Pediatric transplantationMucopolysaccharidosis III in Taiwan: Natural history, clinical and molecular characteristics of 28 patients diagnosed during a 21-year period.
American journal of medical genetics. Part AElosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.
Molecular genetics and metabolism reportsUtilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
PloS oneNeurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Orphanet journal of rare diseasesEarly prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis.
Prenatal diagnosisTrehalose reduces retinal degeneration, neuroinflammation and storage burden caused by a lysosomal hydrolase deficiency.
AutophagyBrain-targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms.
EMBO molecular medicineClinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).
Orphanet journal of rare diseasesMichigan Hand Outcomes Questionnaire for the Evaluation of Patients with Mucopolysaccharidosis.
Bulletin of the Hospital for Joint Disease (2013)Natural history of echocardiographic abnormalities in mucopolysaccharidosis III.
Molecular genetics and metabolismChildren with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.
Acta paediatrica (Oslo, Norway : 1992)Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B.
The Journal of pediatricsA Unique Case of Cervical Myelopathy in an Adult Patient with Scheie Syndrome.
Journal of orthopaedic case reportsSAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Clinical geneticsp.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Annals of human geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Doenças raras (geral).
Associação brasileira dedicada a Doenças raras (geral).
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
Associação brasileira dedicada a Mucopolissacaridoses.
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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.
- Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.
- Comparative 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 Therapy· 2026· PMID 41376155mais citado
- Non-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 Therapy· 2026· PMID 41017152mais citado
- Computational Prediction of Deleterious SNPs in the GALNS Gene Implicated in Morquio A Syndrome (MPS IVA).
- T1-T12 and T1-S1 Lengths at Maturity in Patients With Skeletal Dysplasia.
- Teriparatide in Two Patients With Mucopolysaccharidosis Type IVB.
- Management of Progressive Superolateral Left Hip Pain in a 28-year-old Male with Mucopolysaccharidosis II (MPS II).
- Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges.
- Microwave-Assisted Synthesis and Enzyme Stabilization Study of N‑Alkyl Praziquantel Analogs for Arylsulfatase B: Possible Leads for Mucopolysaccharidosis VI Therapy.
- Quantification of glycosaminoglycans in dried blood spots, and evaluation of its usefulness as a secondary newborn screening test for mucopolysaccharidoses.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:584(Orphanet)
- OMIM OMIM:253220(OMIM)
- MONDO:0009662(MONDO)
- GARD:7096(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1750471(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
