Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

Author:

Busquets C.,Coll M. J.,Christensen E.,Campistol J.,Clusellas N.,Vilaseca M. A.,Ribes A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish;Biery;Am J Hum Genet,1996

2. Glutaric aciduria type I: unusual biochemical presentation;Campistol;J Pediatr,1992

3. Prenatal diagnosis of glutaryl-CoA dehydrogenase deficiency: experience using first-trimester chorionic villus sampling;Christensen;Prenat Diagn,1994

4. Compound heterozygosity in the glutaryl-CoA dehydrogenase gene with R227P mutation on one allele is associated with no or very low glutarate excretion;Christensen;J Inher Metab Dis,1997

5. Antenatal diagnosis of glutaric acidemia;Goodman;Am J Hum Genet,1980

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1. Prenatal Diagnosis of Glutaric Acidemia I Based on Amniotic Fluid Samples in 42 Families Using Genetic and Biochemical Approaches;Frontiers in Genetics;2020-05-20

2. Infusionstherapie und Ernährung bei angeborenen Stoffwechselstörungen;Ernährungsmedizin Pädiatrie;2012-12-19

3. Gestational age-related reference values for amniotic fluid organic acids;Prenatal Diagnosis;2009-11-30

4. Glutaric Aciduria Type 1;Magnetic Resonance of Myelination and Myelin Disorders;2005

5. Infusionstherapie und Ernährung von Risikogruppen;Infusionstherapie und Diätetik in der Pädiatrie;2005

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