Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis

Prenatal Diagnosis

Volumn 20, Issue 9, 2000, Pages 761-764

  Busquets, C ^a   Coll, M J ^a   Merinero, B ^b   Ugarte, M ^b   Ruiz, M A ^c   Martinez Bermejo, A ^d   Ribes, A ^a  

^a Institut de Bioquimica Clinica Barcelona   (Spain)

^b UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^d HOSPITAL INFANTIL LA PAZ   (Spain)

Author keywords

DNA based prenatal diagnosis; GCDH; Glutaric aciduria type I

Indexed keywords

GLUTARIC ACID; GLUTARYL COENZYME A DEHYDROGENASE;

ACIDURIA; ARTICLE; CASE REPORT; CHORION VILLUS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; DNA DETERMINATION; ENZYME ANALYSIS; FEMALE; GENE ISOLATION; GENE LOCUS; GENETIC RISK; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; RELIABILITY; SCHOOL CHILD;

EID: 0033802226     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/1097-0223(200009)20:9<761::AID-PD894>3.0.CO;2-T     Document Type: Article

References (18)

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3. Glutaryl-CoA dehydrogenase deficiency in Spain: Evidence of two groups of patients, genetically and biochemically distinct
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8. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation in one allele is associated with no or very low free glutarate excretion
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13. Assignment of human glutaryl-CoA dehydrogenase gene (GCDH) to the short arm of chromosome 19 (19p13.2) by in situ hybridisation and somatic cell hybrid analysis
14. Early prenatal diagnosis in two pregnancies at risk for glutaryl-CoA dehydrogenase deficiency
15. Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA dehydrogenase deficiency
16. The human glutaryl-CoA dehydrogenase gene: Report of intronic sequence and of 13 novel mutations causing glutaric aciduria type I
17. Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines
18. Glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency): Advances and unanswered questions