Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

Journal of Inherited Metabolic Disease

Volumn 20, Issue 4, 1997, Pages 615-616

  Pavlu H ^a   Elleder, M ^a,b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF EXPERIMENTAL MEDICINE   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; CODON; CONTROLLED STUDY; ENZYME DEFICIENCY; EXON; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; NIEMANN PICK DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION;

ADULT; DNA; HUMANS; MALE; MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 0030743788     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005387932546     Document Type: Article

References (3)

1. Elleder M, Nevoral J, Špičáková V, et al (1986) A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesion and low in vivo degradation rate of sphingomyelin. J Inher Metab Dis 9: 357-366.
2. Elleder M, Čihula J, Svěrák J, Vanier MT (1988) Family with profound sphingomyelinase deficiency resisting closer subclassification. In Salvayre R, Douste-Blazy L, Gatt S, eds. Lipid Storage Disorders. Biological and Medical Aspects. New York: Plenum Press, 153-161.
3. Vanier MT, Suzuki K (1996) Niemann-Pick diseases. In Vinken PJ, Bruyn GW, Moser HW, eds. Neurodystrophies and Neurolipidoses, Handbook of Clinical Neurology, Vol. 66/Revised Series Vol. 22. Amsterdam: Elsevier Science, 133-162.