Diagnosis of inherited disorders of galactose metabolism

Current Protocols in Human Genetics

Volumn , Issue SUPPL. 56, 2008, Pages

  Cuthbert, Carla ^a   Klapper, Helene ^a   Elsas, Louis ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Galactitol; Galactose; Galactose 1 phosphate; Galactosemia; Metabolism; Neonatal screening

Indexed keywords

EPIMERASE; GALACTITOL; GALACTOKINASE; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE GLUCOSE; URIDINE PHOSPHOGALACTOSE 4' EPIMERASE;

ARTICLE; DISORDERS OF CARBOHYDRATE METABOLISM; ENZYME ACTIVITY; ENZYME ASSAY; GENETIC DISORDER; HUMAN; INBORN ERROR OF METABOLISM; INHERITANCE; INHERITED DISORDER OF GALACTOSE METABOLISM; NEWBORN SCREENING; PRIORITY JOURNAL;

EID: 57549087209     PISSN: 19348266     EISSN: 19348258     Source Type: Journal    
DOI: 10.1002/0471142905.hg1705s56     Document Type: Article

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