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GRACILE Syndrome
(3)
Description
Gracile Syndrome is an autosomal recessive metabolic disorder presenting with fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis), profound lactic acidosis, and early death. It is sometimes known as Fellman syndrome.
Description
Gracile Syndrome is an autosomal recessive metabolic disorder presenting with fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload (liver hemosiderosis), profound lactic acidosis, and early death. It is sometimes known as Fellman syndrome.
GRACILE Syndrome
Online Mendelian Inheritance in Man
(Site) - Details the state of knowledge of the genetics of Gracile Syndrome.
Molecular Genetics of The Gracile Syndrome
(Site) - Very detailed information in the form of a dissertation by Ilona Visapää.
Gracile Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L
(Site) - 2002 paper by Visapää et al.
Last update: 2008-05-06 13:32:14
GRACILE Syndrome
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