Molecular basis of disorders of human galactose metabolism: Past, present, and future

Molecular Genetics and Metabolism

Volumn 71, Issue 1-2, 2000, Pages 62-65

  Novelli, Giuseppe ^a   Reichardt, Juergen K V ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

Author keywords

Galactosemia; Genotype phenotype correlations; Heterozygote advantage; Mendelian disorder; Mutation analysis; Structure function correlations

Indexed keywords

CARBOHYDRATE; GALACTOKINASE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

CARBOHYDRATE METABOLISM; CORRELATION FUNCTION; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME DEFICIENCY; ENZYME STRUCTURE; GALACTOSEMIA; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; MOLECULAR CLONING; MOLECULAR GENETICS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN STRUCTURE; SHORT SURVEY; STRUCTURE ANALYSIS;

EID: 0033799301     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2000.3073     Document Type: Article

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