Fatal genetic defect causing Wolman disease
Author:
Affiliation:
1. ; Division of Metabolic Diseases, Department of General Pediatrics; University Children's Hospital; Heidelberg Germany
2. ; Institut für Arterioskleroseforschung; University of Münster; Münster Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005428122457/fullpdf
Reference5 articles.
1. Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families;Tuchman;Hum Genet,1996
2. Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity;Aslanidis;Genomics,1996
3. Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease;Maslen;J Inher Metab Dis,1995
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