Clinical and Genetic Characteristics of Mexican Patients with Juvenile Presentation of Niemann-Pick Type C Disease

Niemann-Pick type C disease (NPC) is a rare lysosomal disease with a protean presentation, ranging from a fatal neonatal course with visceromegaly to an adult presentation with only neurological or psychiatric symptomatology. In this report we describe the genetic and clinical characteristics of 3 M...

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Hlavní autoři: Piña-Aguilar, Raul E., Vera-Loaiza, Aurea, Chacón-Camacho, Oscar F., Zenteno, Juan Carlos, Nuñez-Orozco, Lilia, Santillán-Hernández, Yuritzi
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2014
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4202276/
https://ncbi.nlm.nih.gov/pubmed/25349751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2014/785890
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