| Autor: |
Sarah Catharina Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, Anke Schumann, Ute Spiekerkoetter |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100770- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2214-4269 |
| DOI: |
10.1016/j.ymgmr.2021.100770 |
| Popis: |
Glycogen storage disease type VI is caused by biallelic variants in the PYGL gene that result in hepatic glycogen phosphorylase deficiency. The disorder is clinically characterized by hepatomegaly and recurrent ketotic hypoglycemia from infancy. Although most patients reach adulthood without major complications, no pregnancies in women with GSD VI have been reported so far. We report on a successful pregnancy in a GSD VI patient that resulted in a healthy offspring and describe the pre- and perinatal management. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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