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Three successful pregnancies in a patient with glycogen storage disease type 0

Glycogen storage disease type 0 (GSD 0) is a rare inborn error of metabolism due to deficiency of the enzyme glycogen synthase (EC 2.4.1.11). The disorder is clinically characterized by ketotic fasting hypoglycemia in combination with postprandial hyperglycemia and hyperlactatemia. So far, only one...

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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7802628/
https://ncbi.nlm.nih.gov/pubmed/33473338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12178
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