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Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish Patients

Niemann-Pick disease (NPD) types A/B are both caused by a deficiency of lysosomal acid sphingomyelinase and display autosomal recessive inheritance. These two types of the disease were described according to the presence (type A) or absence (type B) of neurological symptoms. We present a molecular a...

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Библиографические подробности
Главные авторы: Rodríguez-Pascau, Laura, Gort, Laura, Schuchman, Edward H., Vilageliu, Lluïsa, Grinberg, Daniel, Chabás, Amparo
Формат: Artigo
Язык:Inglês
Опубликовано: 2009
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2760245/
https://ncbi.nlm.nih.gov/pubmed/19405096
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21018
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