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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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| Publicat a: | F1000Res |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
F1000Research
2015
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| Matèries: | |
| Accés en línia: | 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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