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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.

作者信息

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

机构信息

Department of Pediatrics, Nutrition and Metabolic Disorders, the Children's Memorial Health Institute, Warsaw, Poland.

Department of Pathology, the Children's Memorial Health Institute, Warsaw, Poland.

出版信息

Arch Med Sci. 2018 Jan;14(1):237-247. doi: 10.5114/aoms.2018.72246. Epub 2017 Dec 19.

DOI:10.5114/aoms.2018.72246
PMID:29379554
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5778435/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/9aa7d23c904a/AMS-14-31303-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/0f3e534f12d1/AMS-14-31303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/381598ccea8d/AMS-14-31303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/2a0437f61800/AMS-14-31303-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/3ff1ac02ee2d/AMS-14-31303-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/9aa7d23c904a/AMS-14-31303-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/0f3e534f12d1/AMS-14-31303-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/381598ccea8d/AMS-14-31303-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/2a0437f61800/AMS-14-31303-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/3ff1ac02ee2d/AMS-14-31303-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ce8/5778435/9aa7d23c904a/AMS-14-31303-g005.jpg

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本文引用的文献

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Arrhythmogenic cardiomyopathy.致心律失常性心肌病
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3
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.糖基磷脂酰肌醇（GPI）锚生物合成先天性疾病——两名PIGN和PGAP2基因存在新突变患者的表型
JCI Insight. 2024 May 14;9(12):e177722. doi: 10.1172/jci.insight.177722.
4
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.诱导多能干细胞（iPSC）建模验证了在一名疑似糖原贮积病IV型患者中发现的一种新型变体p.Ile694Asn导致的GBE1酶活性降低。
Mol Genet Metab Rep. 2024 Mar 14;39:101069. doi: 10.1016/j.ymgmr.2024.101069. eCollection 2024 Jun.
5
Glycogen storage diseases: An update.糖原贮积病：更新。
World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932.
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