Prenatal diagnosis of galactosemia
Author:
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference14 articles.
1. Hereditary Galactokinase Deficiency, a Newly Recognized Cause of Juvenile Cataracts31
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3. STUDIES ON CELL LINES DEVELOPED FROM THE TISSUES OF PATIENTS WITH GALACTOSEMIA
4. Galactose-1-phosphate uridyltransferase and galactokinase activity in cultured human diploid fibroblasts and peripheral blood leukocytes
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1. Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants;Clinical Genetics;2017-08-09
2. Prenatal diagnosis of galactosaemia in six pregnancies' possible complications with rare alleles of the galactose 1-phosphate uridyl transferase locus;Clinical Genetics;2008-04-23
3. Elucidation of an unbalanced chromosome translocation by gene dosage studies;Clinical Genetics;2008-04-23
4. Metabolic fate of administered [13C]galactose in tissues of galactose-1-phosphate uridyl transferase deficient mice determined by nuclear magnetic resonance;Molecular Genetics and Metabolism;2007-01
5. Galactosaemia: Early treatment with an elemental formula;Journal of Inherited Metabolic Disease;2005-04
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