Fatal genetic defect causing Wolman disease

Journal of Inherited Metabolic Disease

Volumn 22, Issue 1, 1999, Pages 93-94

  Mayatepek, E ^a   Seedorf, U ^b   Wiebusch, H ^b   Lenhartz, H ^a   Assmann, G ^b  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACID LIPASE;

ARTICLE; CASE REPORT; DISEASE COURSE; ENZYME DEFICIENCY; FATALITY; FEMALE; GENETIC DISORDER; HUMAN; INFANT; NEWBORN; WOLMAN DISEASE;

FATAL OUTCOME; FEMALE; HUMANS; INFANT; LIPASE; WOLMAN DISEASE;

EID: 0033062891     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005428122457     Document Type: Article

References (3)

1. Aslanidis C, Ries S, Fehringer P, Buchler C, Klima H, Schmitz G (1996) Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 33: 85-93.
2. Assmann G, Seedorf U (1995) Acid lipase deficiency: Wolman disease and cholesterol ester storage disease. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2563-2587.
3. Maslen CL, Babcock D, Illingworth DR (1995) Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. J Inher Metab Dis 18: 620-623.