載入...

Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene

Glycogen Storage Disease type III (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme. In childhood, it is characterized by hepatomegaly, keto-hypoglycemic episodes after short periods of fasting, and hyperlipidemia. I...

全面介紹

Na minha lista:
書目詳細資料
Main Authors: Sentner, Christiaan P, Vos, Yvonne J, Niezen-Koning, Klary N, Mol, Bart, Smit, G Peter A.
格式: Artigo
語言:Inglês
出版: Springer Berlin Heidelberg 2012
主題:
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC3575051/
https://ncbi.nlm.nih.gov/pubmed/23430490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_134
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!