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Misdiagnosis of Niemann-Pick disease type C as Gaucher disease
Niemann-Pick disease type C (NPC) is a model for inborn errors of metabolism whose gene product mediates molecular trafficking rather than catabolizing macromolecules, as in classic lipidoses. We report the case of an infant who presented with hepatosplenomegaly without neurological abnormalities. D...
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| Autori principali: | , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2010
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3053412/ https://ncbi.nlm.nih.gov/pubmed/20882348 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9214-3 |
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