UDPgalactose epimerase in lens and fibroblasts: Activity expression in patients with cataracts and mental retardation

Journal of Inherited Metabolic Disease

Volumn 23, Issue 4, 2000, Pages 383-386

  Shin, Y S ^a,e   Korenke, G C ^b   Huppke, P ^b   Knerr, I ^c   Podskarbi, T ^d  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY OF GÖTTINGEN   (Germany)

^c UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^d Molecular Genetics and Metabolism Laboratory   (Germany)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTOSE; IDITOL DEHYDROGENASE; URIDINE DIPHOSPHATE GLUCOSE 4 EPIMERASE;

CATARACT; CHILD; CONFERENCE PAPER; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; FIBROBLAST; GALACTOSEMIA; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; LENS; MAJOR CLINICAL STUDY; MENTAL DEFICIENCY; NEWBORN;

CATARACT; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; FEMALE; FIBROBLASTS; GALACTOSEMIAS; HUMANS; INFANT; LENS, CRYSTALLINE; MALE; MENTAL RETARDATION; UDPGLUCOSE 4-EPIMERASE;

EID: 0034040017     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005699719068     Document Type: Conference Paper

References (13)

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