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Progress in Clinical and Biological Research
|
January 1, 1992
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles
J H Ding, P Bross, B Z Yang, et al.
Biochemical Medicine and Metabolic Biology
|
June 1, 1994
Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme
P Bross, T G Jensen, B S Andresen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
N Gregersen, B S Andresen, P Bross, et al.
Biochimica Et Biophysica Acta
|
October 20, 1993
Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
P Bross, B S Andresen, V Winter, et al.
Clinical Genetics
|
December 16, 2011
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus
J H Christensen, H Kvistgaard, J Knudsen, et al.
Annals of Neurology
|
April 18, 1998
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
A H Smelt, B J Poorthuis, W Onkenhout, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
R K J Olsen, M Pourfarzam, A A M Morris, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
N Gregersen, V Winter, S Lyonnet, et al.
Prenatal Diagnosis
|
January 1, 1995
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood
N Gregersen, V Winter, P K Jensen, et al.
Molecular Genetics and Metabolism
|
April 23, 2003
Late-onset form of beta-electron transfer flavoprotein deficiency
A Curcoy, R K J Olsen, A Ribes, et al.
Page
of 21
Search research articles
Search
Showing results (161-170 of 208) with videos related to
Sort By:
Page
of 21
Progress in Clinical and Biological Research
|
January 1, 1992
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles
J H Ding, P Bross, B Z Yang, et al.
Biochemical Medicine and Metabolic Biology
|
June 1, 1994
Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme
P Bross, T G Jensen, B S Andresen, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency
N Gregersen, B S Andresen, P Bross, et al.
Biochimica Et Biophysica Acta
|
October 20, 1993
Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
P Bross, B S Andresen, V Winter, et al.
Clinical Genetics
|
December 16, 2011
A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early-onset neurohypophyseal diabetes insipidus
J H Christensen, H Kvistgaard, J Knudsen, et al.
Annals of Neurology
|
April 18, 1998
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
A H Smelt, B J Poorthuis, W Onkenhout, et al.
Journal of Inherited Metabolic Disease
|
January 27, 2005
Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency
R K J Olsen, M Pourfarzam, A A M Morris, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1994
Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
N Gregersen, V Winter, S Lyonnet, et al.
Prenatal Diagnosis
|
January 1, 1995
Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood
N Gregersen, V Winter, P K Jensen, et al.
Molecular Genetics and Metabolism
|
April 23, 2003
Late-onset form of beta-electron transfer flavoprotein deficiency
A Curcoy, R K J Olsen, A Ribes, et al.
Page
of 21