Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
Copyright policy ) S. Lucchiari; D. Santoro; S. Pagliarani; G. P. Comi Giacomo;
Clinical, biochemical and genetic features of glycogen debranching enzyme deficiency.
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.
Italy
- University of Milan Italy
Male, AGL; Glycogen storage disease; Metabolic myopathy, Genotype, Glycogen Debranching Enzyme System, Diet, Glycogen Storage Disease Type III, Phenotype, Italy, Humans, Female
Male, AGL; Glycogen storage disease; Metabolic myopathy, Genotype, Glycogen Debranching Enzyme System, Diet, Glycogen Storage Disease Type III, Phenotype, Italy, Humans, Female
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selected citations
Citations provided by BIP!
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
Citations provided by BIP!popularityPopularity provided by BIP!
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
Popularity provided by BIP! 36
Top 10%
Top 10%
Average
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