Article

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS I

2023-01-09

Abstract excerpt

Mucopolysaccharidoses (MPSs) is a major group of the Lysosomal storage disorders (LSDs) with defective degradation of glycosaminoglycans (GAGs) due to deficiency of certain lysosomal enzymes. Enzyme replacement therapy (ERT) or bone marrow transplantation are the key therapeutic options available for MPS disorders. Early diagnosis and appropriate intervention improve the therapeutic efficacy. To establish a genoty...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a00edd30-fc17-59de-86c4-beacd24d1a6b
DOI: 10.21203/rs.3.rs-1676387/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Application of pathogenicity scores as diagnostic and prognostic markers for MPS disorders: In-silico analysis in MPS IDOI 10.21203/rs.3.rs-1676387/v2Read

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.Semantic proximity Read

Molecular basis of mucopolysaccharidosis type II (Hunter syndrome): first review and classification of published IDS gene variants.Semantic proximity Read

Phenotype-oriented NGS panels for mucopolysaccharidoses: Validation and potential use in the diagnostic flowchartSemantic proximity Read

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.Semantic proximity Read

A Review Of The Clinical Outcomes In Idursulfase-Treated And Untreated Filipino Patients With Mucopolysaccharidosis Type II: Data From The Local Lysosomal Storage Disease RegistrySemantic proximity Read

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter studySemantic proximity Read

Prediction of the Effect of Naturally Occurring Missense Mutations on Cellular <i>N-Acetyl-Glucosaminidase</i> Enzymatic ActivitySemantic proximity Read

Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.Semantic proximity Read

A molecular genetics view on Mucopolysaccharidosis Type II.Semantic proximity Read

Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.Semantic proximity Read

Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.Semantic proximity Read

Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.Semantic proximity Read