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Article

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Feb 2013

Wang Jing, Cui Hong, Lee Ni-Chung, Hwu Wuh-Liang, Chien Yin-Hsiu, Craigen William J, Wong Lee-Jun, Zhang Victor Wei

Abstract excerpt

PURPOSE: Glycogen storage diseases are a group of inborn errors of glycogen synthesis or catabolism. The outcome for untreated patients can be devastating. Given the genetic heterogeneity and the limited availability of enzyme study data, the definitive diagnosis of glycogen storage diseases is made on the basis of sequence analysis of selected potentially causative genes. METHODS: A massively parallel sequencing...

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Source

Identifiers

PMID: 22899091
DOI: 10.1038/gim.2012.104

Genes

AGL
GAA
GBE1
GYS1
GYS2
PFKM
PGAM2
PGM1
PHKG2
PYGL
PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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