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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Detalles Bibliográficos
Autores principales: Dalal, Priti G., Coleman, Melissa, Horst, Meagan, Rocourt, Dorothy, Ladda, Roger L., Janicki, Piotr K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000Research 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743149/
https://www.ncbi.nlm.nih.gov/pubmed/26913189
http://dx.doi.org/10.12688/f1000research.7470.1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743149/
https://www.ncbi.nlm.nih.gov/pubmed/26913189
http://dx.doi.org/10.12688/f1000research.7470.1

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