Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B

Newborns with cystic degeneration with or without intractable seizures should be investigated for inborn errors of metabolism, including molybdenum cofactor deficiency (MoCoD). MoCoD may present with non-specific hypoxic ischemic injury in the neonatal period with MRI showing extensive prenatally ac...

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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Hannah-Shmouni, Fady, MacNeil, Lauren, Potter, Murray, Jobling, Rebekah, Yoon, Grace, Laughlin, Suzanne, Blaser, Susan, Inbar-Feigenberg, Michal
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2018
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6304431/
https://ncbi.nlm.nih.gov/pubmed/30619713
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.12.003
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