Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder-Reference-Cited by-同舟云学术

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Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

Published:2010-01-08 Issue:S3 Volume:33 Page:83-90
ISSN:1573-2665
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Li Sing-Chung,Chen Chiao-Ming,Goldstein Jennifer L.,Wu Jer-Yuarn,Lemyre Emmanuelle,Burrow Thomas Andrew,Kang Peter B.,Chen Yuan-Tsong,Bali Deeksha S.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-009-9026-5

Reference31 articles.

1. Akman HO, Karadimas C, Gyftodimou Y et al (2006) Prenatal diagnosis of glycogen storage disease type IV. Prenat Diagn 26:951–955

2. Assereto S, van Diggelen OP, Diogo L et al (2007) Null mutations and lethal congenital form of glycogen storage disease type IV. Biochem Biophys Res Commun 361:445–450

3. Bannayan GA, Dean WJ, Howell RR (1976) Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study. Am J Clin Pathol 66:702–709

4. Bao Y, Kishnani P, Wu JY, Chen YT (1996) Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene. J Clin Invest 97:941–948

5. Barash V, Lilling S, Fischer R, Argov Z (1991) Apparent absence of glycogen branching enzyme activity in phosphofructokinase deficiency. J Inherit Metab Dis 14:902–907

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1. Unraveling a history of overlap: A phenotypic comparison of RBCK1‐related disease and glycogen storage disease type IV;American Journal of Medical Genetics Part A;2024-03-04

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3. Severe neuromuscular forms of glycogen storage disease type IV: Histological, clinical, biochemical, and molecular findings in a large French case series;Journal of Inherited Metabolic Disease;2023-11-27

4. An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV;Children;2023-08-11

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