Article
Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Human mutation - 1 Jul 2009
Rodríguez-Pascau Laura, Gort Laura, Schuchman Edward H, Vilageliu Lluïsa, Grinberg Daniel, Chabás Amparo
Abstract excerpt
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 analysis of 19 Spanish NPD A/B patients and two from Maghreb. Eight of the patients had type A and 13 had type B NPD....
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