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Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mu...

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Detaylı Bibliyografya
Yayımlandı:F1000Res
Asıl Yazarlar: Dalal, Priti G., Coleman, Melissa, Horst, Meagan, Rocourt, Dorothy, Ladda, Roger L., Janicki, Piotr K.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: F1000Research 2015
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4743149/
https://ncbi.nlm.nih.gov/pubmed/26913189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.7470.1
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