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Successful pregnancy in a woman with glycogen storage disease type 6
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 c...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Mol Genet Metab Rep |
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| Κύριοι συγγραφείς: | , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2021
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8129987/ https://ncbi.nlm.nih.gov/pubmed/34026552 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100770 |
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