Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis-Reference-Cited by-同舟云学术

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Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis

Published:2006-06 Issue:7 Volume:48 Page:878-880
ISSN:0309-0167
Container-title:Histopathology
language:en
Short-container-title:Histopathology

Author:

Konstantinidou A E,Anninos H,Gyftodimou Y,Petersen M B,Karadimas C,Fotopoulos S,Paraskevakou H,Akman H O,DiMauro S,Patsouris E

Publisher

Wiley

Subject

General Medicine,Histology,Pathology and Forensic Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2559.2006.02425.x/fullpdf

Reference6 articles.

1. Glycogen and its Metabolism

2. The Variable Presentations of Glycogen Storage Disease Type IV: A Review of Clinical, Enzymatic and Molecular Studies

3. A Congenital Variant of Glycogenosis Type IV

4. Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Induced pluripotent stem cell (iPSC) modeling validates reduced GBE1 enzyme activity due to a novel variant, p.Ile694Asn, found in a patient with suspected glycogen storage disease IV;Molecular Genetics and Metabolism Reports;2024-06

2. Glycogen Storage Diseases of Muscle;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015

3. Metabolic Myopathies;Neuromuscular Disorders in Clinical Practice;2013-04-26

4. Neonatal presentation of lethal neuromuscular glycogen storage disease type IV;Journal of Perinatology;2012-09-27

5. Metabolic disorders of fetal life: Glycogenoses and mitochondrial defects of the mitochondrial respiratory chain;Seminars in Fetal and Neonatal Medicine;2011-08

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