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Article

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay.

American journal of medical genetics. Part A - 1 Jan 2018

Myers Kenneth A, Bennett Mark F, Chow Chung W, Carden Susan M, Mandelstam Simone A, Bahlo Melanie, Scheffer Ingrid E

Abstract excerpt

Inherited metabolic disorders are traditionally diagnosed using broad and expensive panels of screening tests, often including invasive skin and muscle biopsy. Proponents of next-generation genetic sequencing have argued that replacing these screening panels with whole exome sequencing (WES) would save money. Here, we present a complex patient in whom WES allowed diagnosis of GM1 gangliosidosis, caused by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29160035
DOI: 10.1002/ajmg.a.38549

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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