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Galactosemia : A Genetic Disease of Leloir Pathway
Galactosemia is a genetic disorder which causes inability to metabolize galactose in the body. Our body converts galactose into glycolytic intermediate by Leloir pathway. Galactosemia is caused by the mutation in the gene encoding enzymes of Leloir pathway or non-functioning of these enzymes. Types of galactosemia are due to different enzyme deficiencies. Type I is for GALT (galactose-1-phospha...
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ژورنال
عنوان ژورنال: Nature
سال: 1988
ISSN: 0028-0836,1476-4687
DOI: 10.1038/331212b0