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Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib

OBJECTIVE: The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I. METHODS: The clinical data of one patient with glycogen storage disease-type I accumulation syndrome and the results of SLC37A4...

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Detalles Bibliográficos
Autores principales: Zhang, Yamei, Sun, Huihui, Wan, Naijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7045669/
https://www.ncbi.nlm.nih.gov/pubmed/31617422
http://dx.doi.org/10.1177/0300060519867819