Prenatal diagnosis of galactose-1-phosphate uridyltransferase (GALT)-deficient galactosemia

Prenatal Diagnosis

Volumn 21, Issue 4, 2001, Pages 302-303

  Elsas, Louis J ^a  

^a EMORY UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GALACTITOL; GALACTOSE; GALACTOSE 1 PHOSPHATE URIDYLYLTRANSFERASE;

AMNION FLUID; CHORION VILLUS; CYTOGENETICS; DIAGNOSTIC PROCEDURE; DIET RESTRICTION; ENZYME DEFICIENCY; GALACTOSEMIA; GENETIC COUNSELING; GENOTYPE; HUMAN; LIVER TOXICITY; NOTE; PATIENT COUNSELING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TREATMENT INDICATION;

AMNIOTIC FLUID; CHORIONIC VILLI; CHORIONIC VILLI SAMPLING; DIET; FEMALE; GALACTOSE; GALACTOSEMIAS; GESTATIONAL AGE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS; UTP-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE;

EID: 0035012477     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.46     Document Type: Note

References (15)

1. Evidence of galactosemia in utero
2. Newborn screening
3. The molecular biology of galactosemia
4. A molecular approach to galactosemia
5. Galactosemia: A strategy to identify new biochemical phenotypes and molecular genotypes
6. Sequence of a cDNA encoding human galactose-1-phosphate uridyltransferase
7. Accumulation of galacatose-1-phosphate in the galactosemic fetus despite maternal milk avoidance
8. Prenatal diagnosis of galactosemia
9. First trimester diagnosis of galactosemia
10. The biochemical role of glutamine-188 in human galactose-1-phosphate uridyltransferase
11. Chronic galactosemia
12. Galactose-1-phosphate uridyltransferase in cultured cells
13. Outcomes analysis of verbal dyspraxia in classic galactosemia
14. Disorders of galactose metabolism
15. Long-term prognosis in galactosemia: Results of a survey of 350 cases