Low efficiency of [14C]galactose incorporation by galactosemic skin fibroblasts: relationship with neurological sequelae.

doi:10.1006/bmmb.1994.1046

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Article

Low efficiency of [14C]galactose incorporation by galactosemic skin fibroblasts: relationship with neurological sequelae.

Biochemical medicine and metabolic biology - 1 Aug 1994

Kadhom N, Baptista J, Brivet M, Wolfrom C, Gautier M

Abstract excerpt

The incorporation of radioactivity from [1-14C]-galactose into TCA-precipitable material was determined in skin fibroblasts derived from 11 galactosemic patients deficient in galactose 1-phosphate uridyl transferase (GALT-). "R" ratios (designated the R phenotype) were defined as the ratio betwee...

Topics

Adolescent
Cells, Cultured
Child
Fibroblasts
Galactose
Galactosemias
Humans
Infant
Infant, Newborn
Leucine
Nervous System Diseases
Phenotype
Skin
UTP-Hexose-1-Phosphate Uridylyltransferase

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