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Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

BACKGROUND: Patients with infantile-onset Pompe disease (IOPD) can be identified through newborn screening, and the subsequent immediate initiation of enzyme replacement therapy significantly improves the prognosis of these patients. However, they still present residual muscle weakness. In the prese...

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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Peng, Steven Shinn-Forng, Hwu, Wuh-Liang, Lee, Ni-Chung, Tsai, Fuu-Jen, Tsai, Wen-Hui, Chien, Yin-Hsiu
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2016
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4869381/
https://ncbi.nlm.nih.gov/pubmed/27183828
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0446-7
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