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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
F1000Research
2015
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| Materias: | |
| 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 |