Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities-Reference-Cited by-同舟云学术

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Variable clinical presentation of glycogen storage disease type IV: from severe hepatosplenomegaly to cardiac insufficiency. Some discrepancies in genetic and biochemical abnormalities

Published:2018 Issue: Volume:1 Page:237-247
ISSN:1734-1922
Container-title:Archives of Medical Science
language:
Short-container-title:aoms

Author:

Szymańska Edyta,Szymańska Sylwia,Truszkowska Grażyna,Ciara Elżbieta,Pronicki Maciej,Shin Yoon S.,Podskarbi Teodor,Kępka Alina,Śpiewak Mateusz,Płoski Rafał,Bilińska Zofia T.,Rokicki Dariusz

Publisher

Termedia Sp. z.o.o.

Subject

General Medicine

Cited by 21 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. Current Clinical Guidelines for the Management of Patients with Glycogen Storage Disease;Pediatric pharmacology;2024-07-04

2. 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

3. Natural history study of hepatic glycogen storage disease type IV and comparison to Gbe1ys/ys model;JCI Insight;2024-05-14

4. РЕДКАЯ ФОРМА ГЛИКОГЕНОВОЙ БОЛЕЗНИ IV ТИПА: КЛИНИЧЕСКОЕ НАБЛЮДЕНИЕ;Azerbaijan Medical Journal;2024-03-28

5. Glycogen storage diseases: An update;World Journal of Gastroenterology;2023-07-07

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