Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI)

Glycogen storage disease type IV (GSD IV) is a rare disease caused by a defect in glycogen branching enzyme 1 (GBE1), which played a crucial role in glycogen branching. GSD IV occurs once in approximately 1 in every 760,000 to 960,000 live births and is inherited in an autosomal recessive pattern. E...

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Bibliographic Details

Published in:	Data in Brief
Main Authors:	Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari
Format:	Article
Language:	English
Published:	Elsevier 2025-02-01
Subjects:	Homo sapiens Rare disease Whole exome sequencing Cipto mangunkusumo national hospital Jakarta Indonesia
Online Access:	http://www.sciencedirect.com/science/article/pii/S2352340924011934