Article
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
Genetic testing and molecular biomarkers - 1 Jun 2011
Valles-Ayoub Yadira, Esfandiarifard Saghi, No Daniel, Sinai Pedram, Khokher Zeshan, Kohan Melody, Kahen Tanaz, Darvish Daniel
Abstract excerpt
Wolman disease (WD) is a rare inherited condition caused by lysosomal acid lipase (LAL) deficiency first described in Iranian-Jewish (IJ) children. Newborns with WD are healthy and active, but soon the infant develops symptoms of severe malnutrition in the first few months of life, and often dies before the age of 1 year. Harmful amounts of lipids accumulate in the spleen, liver, bone marrow, intestine, adrenal...
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