Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?

Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills. Patient 1 was diagnose...

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Publicat a:JIMD Rep
Autors principals: Schene, Imre F., Korenke, Christoph G., Huidekoper, Hidde H., van der Pol, Ludo, Dooijes, Dennis, Breur, Johannes M. P. J., Biskup, Saskia, Fuchs, Sabine A., Visser, Gepke
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6336674/
https://ncbi.nlm.nih.gov/pubmed/30569318
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2018_148
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