The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

ABSTRACT Glycogen storage disease type III (GSD III) is an inborn error of carbohydrate metabolism with an autosomal recessive inheritance pattern. Phenotypically, patients can manifest a broad clinical spectrum. Most patients affected with GSD IIIA (85%) have a non‐functional GDE enzyme primarily a...

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Bibliographic Details
Main Authors: Nuria Puente‐Ruiz, Saru Palaniappan, Alison Woodall, Robert Cooper, Allyson Terry, Andrew Oldham, Abigail Rousseau, Christopher Campbell, Pradeep Vasudevan, Karolina M. Stepien
Format: Article
Language:English
Published: Wiley 2025-07-01
Series:JIMD Reports
Subjects:
cardiac MR
cardiomyopathy
genomic rearrangement
glycogen storage disease type IIIA
pregnancy
Online Access:https://doi.org/10.1002/jmd2.70030
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https://doi.org/10.1002/jmd2.70030

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