Christiane Busquets

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

Christiane Busquets, B. Merinero, Ernst Christensen et al. · Pediatric Research · 2000 · 132 citations · Full text

Aldehyde Dehydrogenase, Metabolic Disorder, Genetics +6

Mutation Analysis of the GCDH Gene in Italian and Portuguese Patients with Glutaric Aciduria Type I

Christiane Busquets, Mercedes Soriano, Isabel Tavares de Almeida et al. · Molecular Genetics and Metabolism · 2000 · 27 citations

Mendelian Disorder, Genetic Disorder, Medicine +10

Evidence of a single origin for the most frequent mutation (R402W) causing glutaryl-CoA dehydrogenase deficiency: Identification of 3 novel polymorphisms and haplotype definition

Christiane Busquets, M. Josep Coll, Antònia Ribes · Human Mutation · 2000 · 14 citations · Full text

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation

Rafael Artuch, Imma Ferrer, Julia Pineda et al. · Journal of Neuroscience Methods · 2003 · 13 citations

Diaminobenzidine Detection, Biochemistry, Inherited Metabolic Disease +6