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P Rinaldo

Showing results (91-100 of 95) with videos related to

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Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.
Pediatric Research|June 1, 1996
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenaseM J Corydon, N Gregersen, W Lehnert, et al.
Pediatric Research|January 3, 2001
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiencyM J Corydon, J Vockley, P Rinaldo, et al.
Pediatric Research|June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismK M Gibson, T G Burlingame, B Hogema, et al.
Human Molecular Genetics|May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduriaN Gregersen, V S Winter, M J Corydon, et al.
Pageof 10

Showing results (91-100 of 95) with videos related to

Sort By:
Pageof 10
You have reached the last page of results.This site can display upto 95 results.
Journal of Medical Genetics|September 27, 2005
ETHE1 mutations are specific to ethylmalonic encephalopathyV Tiranti, E Briem, E Lamantea, et al.
Pediatric Research|June 1, 1996
Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenaseM J Corydon, N Gregersen, W Lehnert, et al.
Pediatric Research|January 3, 2001
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiencyM J Corydon, J Vockley, P Rinaldo, et al.
Pediatric Research|June 1, 2000
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolismK M Gibson, T G Burlingame, B Hogema, et al.
Human Molecular Genetics|May 16, 1998
Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduriaN Gregersen, V S Winter, M J Corydon, et al.
Pageof 10