News on Clinical Details and Treatment in PGM1-CDG

Phosphoglucomutase 1 deficiency has recently been reported as a novel disease that belongs to two different classes of metabolic disorders, congenital disorders of glycosylation (CDG) and glycogen storage diseases. This paper focuses on previously reported siblings with short stature, hypothyroidism...

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Pubblicato in:JIMD Rep
Autori principali: Schrapers, Esther, Tegtmeyer, Laura C., Simic-Schleicher, Gunter, Debus, Volker, Reunert, Janine, Balbach, Sebastian, Klingel, Karin, Du Chesne, Ingrid, Seelhöfer, Anja, Fobker, Manfred, Marquardt, Thorsten, Rust, Stephan
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer Berlin Heidelberg 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5580736/
https://ncbi.nlm.nih.gov/pubmed/26303607
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_471
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