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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Detaylı Bibliyografya
Yayımlandı:JIMD Rep
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Berlin Heidelberg 2015
Konular:
Article
Online Erişim: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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