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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...

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Autors principals: Sentner, Christiaan P, Vos, Yvonne J, Niezen-Koning, Klary N, Mol, Bart, Smit, G Peter A.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2012
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Accés en línia: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
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