Article

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

2015-12-10

Abstract excerpt

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 mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic...

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Literature Corpus work: 5907cc0d-d3ce-5710-80a4-fdac546040ea
DOI: 10.12688/f1000research.7470.1

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