Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency
- 1 August 1997
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (4) , 615-616
- https://doi.org/10.1023/a:1005387932546
Abstract
No abstract availableKeywords
This publication has 2 references indexed in Scilit:
- Family with Profound Sphingomyelinase Deficiency Resisting Closer SubclassificationPublished by Springer Nature ,1988
- A new variant of sphingomyelinase deficiency (Niemann‐Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelinJournal of Inherited Metabolic Disease, 1985