Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference32 articles.
1. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies;Schuchman,2001
2. A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin;Elleder;J Inherit Metab Dis,1986
3. MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency;Obenberger;Neuroradiology,1999
4. Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease;Levran;Hum Mol Genet,1993
5. Affinity generation of single-stranded DNA for dideoxy sequencing following the polymerase chain reaction;Mitchell;Anal Biochem,1989
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