ArticleJIMD reports2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.
Article in JIMD reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Patient Perspectives on Late-Onset Pompe Disease: Insights From a 2025 Patient Snapshot Survey on Diagnosis, Treatment, and Quality of Life.Journal of patient experience · 2026Article
- Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review.Orphanet journal of rare diseases · 2025Article
- Enzyme replacement therapy in infants and very young children with Gaucher disease using velaglucerase alfa: a single-center experience.Frontiers in pediatrics · 2025Article
- Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review.Journal of clinical medicine · 2022Review
- Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.Molecular genetics and metabolism reports · 2022Article
- Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.Frontiers in pediatrics · 2022Article
- Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.JIMD reports · 2021Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Population studies point to regional and ethnicity-specific differences in genetic predisposition for some lysosomal storage disorders (LSDs). The aim of the study was to determine the prevalence of the three treatable forms of lysosomal storage disorders (Gaucher disease [GD], Pompe disease [PD], and Fabry disease [FD]) in a cohort of mostly urban-dwelling individuals of African ancestry, a previously unknown genetic landscape for LSDs. Large-scale selective multistep biochemical and genetic screening was performed in patients seeking healthcare for various health concerns. Fluorimetric enzyme assays for GD, PD, and FD were performed on dried blood spots. Targeted gene sequencing was performed on samples that showed significantly lower enzyme activities (<10% of control mean) after two tiers of enzymatic screening. A total of 5287 unique samples representing a cross section of patients who visited Howard University Hospital and College of Medicine from 2015 to 2017 were included in the study. Study samples were obtained from a population where ~90% reported as African-American, ~5% Hispanic, and <5% Caucasian or other. Regarding GD, three subjects had either homozygous or heterozygous mutations in the
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