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...
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| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2021-06-01
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| coleção: | Molecular Genetics and Metabolism Reports |
| Assuntos: | |
| Acesso em linha: | http://www.sciencedirect.com/science/article/pii/S2214426921000641 |
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