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
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.
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency
S. LucchiariPrimo
;S. Pagliarani;G.P. ComiUltimo
2007
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
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