Data di Pubblicazione:
2007
Citazione:
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency / S. Lucchiari, D. Santoro, S. Pagliarani, G.P. Comi. - In: ACTA MYOLOGICA. - ISSN 1128-2460. - 26:1(2007), pp. 72-74.
Abstract:
Deficiency of debrancher enzyme causes Glycogen Storage Disease (GSD) type III, an autosomal recessive disorder, characterized by tissue accumulation of abnormally structured glycogen. This report reviews current clinical and molecular knowledge about this disorder and describes the variability at phenotype and genotype levels of a large group of Italian GSDIII patients
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
AGL; Glycogen storage disease; Metabolic myopathy
Elenco autori:
S. Lucchiari, D. Santoro, S. Pagliarani, G.P. Comi
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