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Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib

A Boneh1, A W Auldist, D E Francis

  • 1VCGS, Murdoch Childrens Research Institute, Melbourne, Australia. boneha@cryptic.rch.unimelb.edu.au

Journal of Inherited Metabolic Disease
|August 7, 2001
PubMed
Abstract

No abstract available in PubMed .

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...

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