Neuromuscular forms of glycogen branching enzyme deficiency

Deficiency of glycogen branching enzyme is causative of Glycogen Storage Disease type IV (GSD-IV), a rare autosomal recessive disorder of the glycogen synthesis, characterized by the accumulation of amylopectin-like polysaccharide, also known as polyglucosan, in almost all tissues. Its clinical pres...

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Dettagli Bibliografici
Autori principali: Bruno, C, Cassandrini, D, Assereto, S, Orhan Akman, H, Minetti, C, Di Mauro, S
Natura: Artigo
Lingua:Inglês
Pubblicazione: Pacini Editore SpA 2007
Soggetti:
Muscle Glycogenoses
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2949312/
https://ncbi.nlm.nih.gov/pubmed/17915577
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