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The molecular biology of galactosemia

✍ Scribed by Elsas, Louis J; Lai, Kent

Book ID
120736673
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
635 KB
Volume
1
Category
Article
ISSN
1098-3600

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The structural and molecular biology of
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase
✍ Thomas J. McCorvie; David J. Timson πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 276 KB

Reduced galactose 1-phosphate uridylyltransferase (GALT) activity is associated with the genetic disease type I galactosemia. This results in an increase in the cellular concentration of galactose 1-phosphate. The accumulation of this toxic metabolite, combined with aberrant glycoprotein and glycoli

Structural and molecular biology of type
Structural and molecular biology of type I galactosemia: Disease-associated mutations
✍ Thomas J. McCorvie; David J. Timson πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 431 KB

## Abstract Type I galactosemia results from reduced galactose 1‐phosphate uridylyltransferase (GALT) activity. Signs of disease include damage to the eyes, brain, liver, and ovaries. However, the exact nature and severity of the pathology depends on the mutation(s) in the patient's genes and his/h

Molecular and Biochemical Basis of Galac
Molecular and Biochemical Basis of Galactosemia
✍ Boris B.T. Wang; Yan-Kang Xu; Won G. Ng; Lee-Jun C. Wong πŸ“‚ Article πŸ“… 1998 πŸ› Elsevier Science 🌐 English βš– 215 KB

Galactosemia is a clinically heterogeneous autosomal recessive inborn error of metabolism caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). Despite the numerous point mutations identified in the GALT gene, the prevalence of these mutations in different ethnic groups has not b

Biochemical and molecular studies of 132
Biochemical and molecular studies of 132 patients with galactosemia
✍ Won G. Ng; Yan-Kang Xu; Francine R. Kaufman; George N. Donnell; Jon Wolff; Richa πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 447 KB

We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mut