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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:JIMD Rep
Hlavní autoři: Grünert, Sarah C., Rosenbaum‐Fabian, Stefanie, Hannibal, Luciana, Schumann, Anke, Spiekerkötter, Ute
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley & Sons, Inc. 2020
Témata:
Case Reports
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky