Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan

Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC). Disease causing variants in the G6PC gene, located on chromosome 17q21 result in glycogen storage disease type Ia (GSD Ia). Age...

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Detalles Bibliográficos
Autores principales: Gul, Bushra, Firasat, Sabika, Shan, Tayyaba, Tehreem, Raeesa, Afshan, Kiran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688888/
https://www.ncbi.nlm.nih.gov/pubmed/38033126
http://dx.doi.org/10.1371/journal.pone.0288965

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10688888/
https://www.ncbi.nlm.nih.gov/pubmed/38033126
http://dx.doi.org/10.1371/journal.pone.0288965

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