ArticleJournal of human genetics2016
Demographic characteristics and distribution of lysosomal storage disorder subtypes in Eastern China.
Article in Journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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Who cites it
34 citing papers in PubMed, 48 citations in OpenAlex.
- Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.Orphanet journal of rare diseases · 2025Trial
- Development and validation of a self-management efficacy questionnaire for patients with Fabry disease in China.Annals of medicine · 2026Article
- Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study.JMIR pediatrics and parenting · 2026Article
- Concurrent fabry disease and monoclonal gammopathy of renal significance: a case report.BMC nephrology · 2026Article
- Mucopolysaccharidosis II with diverse genetic origins in a single family: a case series and literature review.BMC pediatrics · 2026Review
- Pathogenicity of novel GLA gene missense mutations in Fabry disease and the therapeutic impact of migalastat.Journal of advanced research · 2026Article
- The first case of sick sinus syndrome with an adult Sanfilippo A syndrome: a case report with review of literature.BMC neurology · 2025Review
- Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program.International journal of neonatal screening · 2025Article
- The Birth Prevalence of Mucopolysaccharidosis Types I, II, III, IVA, VI, and VII in the Republic of Kazakhstan Between 1984 and 2023.Diagnostics (Basel, Switzerland) · 2025Article
- Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.Turkish archives of pediatrics · 2025Article
- Safety assessment of laronidase: real-world adverse event analysis based on the FDA adverse event reporting system (FAERS).Frontiers in pharmacology · 2025Article
- A Systematic Literature Review on the Global Status of Newborn Screening for Mucopolysaccharidosis II.International journal of neonatal screening · 2024Review
- Health service utilization, economic burden and quality of life of patients with mucopolysaccharidosis in China.Orphanet journal of rare diseases · 2024Article
- Newborn Screening for 6 Lysosomal Storage Disorders in China.JAMA network open · 2024Article
- Application of tandem mass spectrometry in the screening and diagnosis of mucopolysaccharidoses.Orphanet journal of rare diseases · 2024Review
- Curated incidence of lysosomal storage diseases from the Taiwan Biobank.NPJ genomic medicine · 2023Article
- Mucopolysaccharidosis type IIIC in chinese mainland: clinical and molecular characteristics of ten patients and report of six novel variants in the HGSNAT gene.Metabolic brain disease · 2023Article
- The evolution of the initial manifestations and renal involvement of chinese patients with classical and late-onset Fabry disease at different sexes and ages.BMC nephrology · 2023Article
- Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China.Frontiers in genetics · 2023Article
- Twenty years of Colombian experience with enzymatic screening in patients with features of mucopolysaccharidosis.JIMD reports · 2022Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lysosomal storage disorders (LSDs) are a group of >50 different types of inherited metabolic disorders that result from defects in the lysosome. The aim of this study was to investigate the distribution and demographic characteristics of the different subtypes of LSDs in Eastern China. From 2006 to 2012, 376 out of 1331 clinically suspected patients were diagnosed with 17 different subtypes of LSDs at our hospital. Mucopolysaccharidoses (MPS) were the most common group of LSDs (50.5%), followed by sphingolipidoses (25.4%) and Pompe disease (19.8%). Mucolipidosis type II/III accounted for the remaining 4% of diagnosed LSDs. MPS II was the most common form of MPS, comprising 47.4% of all MPS cases diagnosed, followed by MPS IVA (26.8%) and MPS I (16.3%). Gaucher disease and Niemann-Pick disease type A/B were the two most common forms of sphingolipidoses. There was a large variation in the time between disease onset and eventual diagnosis, from 0.3 years in infantile-onset Pompe disease to 30 years in Fabry disease, highlighting timely and accurate diagnosis of LSDs as the main challenge in China.
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