MPS6

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MPS6

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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mps6

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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Other names: mps6

Review and classification of published variants in the ARSB gene. The purpose of this database is to support researchers and clinicians. understand structural changes on alylsulfatase B (ASB) caused by Mucopolysaccharidosis type VI (MPS6) mutations.

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Publications:

Publications

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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene
PMID: 30118150

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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• Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene PubMed citations: 18.

  18 articles citing: Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

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  Case Report: Reinterpretation and Reclassification of ARSB:p.Arg159Cys Variant Identified in an Emirati Patient With Hearing Loss Caused by a Pathogenic Variant in the CDH23 Gene. PMID:35186827

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  Identification of circRNA Expression Profiles in BMSCs from Glucocorticoid-Induced Osteoporosis Model. PMID:35154330

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  Epidemiology and Genetics of Mucopolysaccharidosis Type VI in Russia. PMID:35118118

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  Mucopolysaccharidosis Type VI, an Updated Overview of the Disease. PMID:34948256

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  Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): defining and measuring functional impacts in pediatric patients. PMID:34857033

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  Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series. PMID:34666789

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  Double valve replacement in a patient with Maroteaux - Lamy syndrome as an ultimate team challenge. PMID:34030701

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  Home treatment of type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) an alternative at this time of COVID-19 pandemic: A case in Peru. PMID:33363956

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  A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI. PMID:33209960

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  Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. PMID:33195324

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  A case of mucopolysaccharidosis type VI in a polish family. Importance of genetic testing and genotype-phenotype relationship in the diagnosis of mucopolysaccharidosis. PMID:33163362

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  Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes. PMID:33147747

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  ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. PMID:32985704

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  Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions. PMID:32759694

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  Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation. PMID:32075597

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  A Novel Pathological ARSB Mutation (c.870G>A; p.Trp290stop) in Mucopolysaccharidosis Type VI Patients. PMID:32021598

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  Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes. PMID:31943020

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  Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study. PMID:30809705

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genetic variation

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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genotype and phenotype

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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biological databases

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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rna splicing

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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exome sequencing

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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rare diseases

metasource: bio.tools
version: extracted_at: 2022-11-04T11:26:38.604219

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genetic variation genotype and phenotype biological rna splicing exome sequencing rare diseases