Article
Homozygous AMN mutation in hereditary selective intestinal malabsorption of vitamin B12 in Jordan.
Saudi medical journal - 1 Jul 2005
Al-Alami Jamil R, Tanner Stephan M, Tayeh Marwan K, de la Chapelle Albert, El-Shanti Hatem
Abstract excerpt
OBJECTIVE: Juvenile megaloblastic anemia is a rare and often hereditary disorder of cobalamin absorption, transport or intracellular metabolism. Several syndromes present with megaloblastic anemia such as congenital megaloblastic anemia due to intrinsic factor defect and juvenile megaloblastic anemia with proteinuria due to defects in the cubilin or the amnionless protein. METHODS: We identified a large kindred...
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