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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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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 |