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Glycogen Storage Disease Type Ia: Linkage of Glucose, Glycogen, Lactic Acid, Triglyceride, and Uric Acid Metabolism

A female presented in infancy with hypotonia, undetectable serum glucose, lactic acidosis, and triglycerides > 5,000 mg/dl. The diagnosis of type 1A glycogen storage disease (GSD) was made by liver biopsy that showed increased glycogen and absent glucose-6-phosphatase enzyme activity. She was tre...

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Hlavní autoři: Sever, Sakine, Weinstein, David A., Wolfsdorf, Joseph I., Gedik, Reyhan, Schaefer, Ernst J.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2012
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3812663/
https://ncbi.nlm.nih.gov/pubmed/23312056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jacl.2012.08.005
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