Prenatal diagnosis of glutaric acidemias

Prenatal Diagnosis

Volumn 21, Issue 13, 2001, Pages 1167-1168

  Goodman, Stephen I ^a  

^a Children's Hospital Colorado   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

AMINOACIDEMIA; AMNION FLUID ANALYSIS; ENZYME ACTIVITY; ENZYME ASSAY; GAS CHROMATOGRAPHY; GENOTYPE; GESTATIONAL AGE; GLUTARIC ACIDEMIA; HUMAN; MASS SPECTROMETRY; MOLECULAR BIOLOGY; NOTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ELECTRON-TRANSFERRING FLAVOPROTEINS; FATTY ACID DESATURASES; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; IRON-SULFUR PROTEINS; METABOLISM, INBORN ERRORS; MULTIENZYME COMPLEXES; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; OXIDOREDUCTASES ACTING ON CH-NH GROUP DONORS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0035708895     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.201     Document Type: Note

References (10)

1. Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis
2. The prenatal diagnosis of glutaric aciduria type II, using quantitative GC-MS
3. Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: Experience using first-trimester chorionic villus sampling
4. Antenatal diagnosis of glutaric acidemia
5. Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid
6. Recurrent fetal polycystic kidneys associated with glutaric aciduria type II
7. Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II
8. Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2
9. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
10. Prenatal diagnosis and neonatal monitoring of a fetus with glutaric aciduria type II due to electron transfer flavoprotein (β-subunit) deficiency