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 Debrancher Enzyme deficiency / S. Lucchiari, D. Santoro, S. Pagliarani, G.P. Comi Giacomo. - In: ACTA MYOLOGICA. - ISSN 1128-2460. - 26:1(2007 Jul), pp. 72-74.
Clinical, biochemical and genetic features of Glycogen Debrancher Enzyme deficiency
S. PagliaraniPenultimo
;G.P. Comi Giacomo
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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