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PedAM

Pediatric Disease Annotations & Medicines




Disease liver cirrhosis
Phenotype C0026846|muscular atrophy
Sentences 1
PubMedID- 26116152 The phenotype observed upon knockdown of glycogen branching enzyme (a blue shift in the color of the iodine–glycogen complex) is indicative of an decrease in glycogen branch length (bailey and whelan 1961) and may be relevant to human glycogen branching enzyme (gbe1) deficiency, in which disease phenotypes (progressive liver cirrhosis leading to liver failure, muscular atrophy, hypotonia, nervous system dysfunction) are correlated with the degree of deposition of an insoluble, poorly branched form of glycogen in tissues (bao et al.

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