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C R Roe

Showing results (101-110 of 122) with videos related to

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Biochemical and Biophysical Research Communications|October 26, 1999
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiencyG He, B Z Yang, D S Roe, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduriaR A Chalmers, T E Stacey, B M Tracey, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parentsM Brivet, A Slama, D S Millington, et al.
Annals of Neurology|October 1, 1977
Pedigree testing in Duchenne muscular dystrophyA D Roses, M J Roses, B S Metcalf, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiencyM J Bennett, P M Coates, D E Hale, et al.
Pediatrics|February 1, 1989
Acute profound dystonia in infants with glutaric acidemiaI Bergman, D Finegold, J C Gartner, et al.
Progress in Clinical and Biological Research|January 1, 1992
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant allelesJ H Ding, P Bross, B Z Yang, et al.
Pediatric Research|January 1, 1994
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemiaJ L Van Hove, S G Kahler, D S Millington, et al.
The Journal of Clinical Investigation|May 1, 1990
2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidationC R Roe, D S Millington, D L Norwood, et al.
Prenatal Diagnosis|December 18, 2001
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changesC A Chisholm, F Vavelidis, M A Lovell, et al.
Pageof 13

Showing results (101-110 of 122) with videos related to

Sort By:
Pageof 13
Biochemical and Biophysical Research Communications|October 26, 1999
Identification of two novel mutations in the hypoglycemic phenotype of very long chain acyl-CoA dehydrogenase deficiencyG He, B Z Yang, D S Roe, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduriaR A Chalmers, T E Stacey, B M Tracey, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parentsM Brivet, A Slama, D S Millington, et al.
Annals of Neurology|October 1, 1977
Pedigree testing in Duchenne muscular dystrophyA D Roses, M J Roses, B S Metcalf, et al.
Journal of Inherited Metabolic Disease|January 1, 1990
Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiencyM J Bennett, P M Coates, D E Hale, et al.
Pediatrics|February 1, 1989
Acute profound dystonia in infants with glutaric acidemiaI Bergman, D Finegold, J C Gartner, et al.
Progress in Clinical and Biological Research|January 1, 1992
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant allelesJ H Ding, P Bross, B Z Yang, et al.
Pediatric Research|January 1, 1994
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemiaJ L Van Hove, S G Kahler, D S Millington, et al.
The Journal of Clinical Investigation|May 1, 1990
2,4-Dienoyl-coenzyme A reductase deficiency: a possible new disorder of fatty acid oxidationC R Roe, D S Millington, D L Norwood, et al.
Prenatal Diagnosis|December 18, 2001
Prenatal diagnosis of multiple acyl-CoA dehydrogenase deficiency: association with elevated alpha-fetoprotein and cystic renal changesC A Chisholm, F Vavelidis, M A Lovell, et al.
Pageof 13