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B T Poll-The

Showing results (91-100 of 127) with videos related to

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European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
European Journal of Pediatrics|September 1, 1987
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophyB T Poll-The, J M Saudubray, H A Ogier, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Neurology|March 29, 2006
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctataA M Bams-Mengerink, C B L M Majoie, M Duran, et al.
European Journal of Clinical Investigation|October 1, 1987
Bile acids in peroxisomal disordersJ R Van Eldere, G G Parmentier, H J Eyssen, et al.
Rheumatology (Oxford, England)|May 24, 2001
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia DJ Frenkel, S M Houten, H R Waterham, et al.
American Journal of Human Genetics|February 1, 1995
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunitI E van den Berg, E A van Beurden, H E Malingré, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
Journal of Inherited Metabolic Disease|September 10, 2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentationM A Cleary, L Dorland, T J de Koning, et al.
American Journal of Human Genetics|March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)B T Poll-The, F Roels, H Ogier, et al.
Pageof 13

Showing results (91-100 of 127) with videos related to

Sort By:
Pageof 13
European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
European Journal of Pediatrics|September 1, 1987
Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophyB T Poll-The, J M Saudubray, H A Ogier, et al.
Human Mutation|January 1, 1996
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiencyW Lissens, L De Meirleir, S Seneca, et al.
Neurology|March 29, 2006
MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctataA M Bams-Mengerink, C B L M Majoie, M Duran, et al.
European Journal of Clinical Investigation|October 1, 1987
Bile acids in peroxisomal disordersJ R Van Eldere, G G Parmentier, H J Eyssen, et al.
Rheumatology (Oxford, England)|May 24, 2001
Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia DJ Frenkel, S M Houten, H R Waterham, et al.
American Journal of Human Genetics|February 1, 1995
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunitI E van den Berg, E A van Beurden, H E Malingré, et al.
Human Mutation|June 6, 2006
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduriaH Bikker, H D Bakker, N G G M Abeling, et al.
Journal of Inherited Metabolic Disease|September 10, 2005
Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentationM A Cleary, L Dorland, T J de Koning, et al.
American Journal of Human Genetics|March 1, 1988
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)B T Poll-The, F Roels, H Ogier, et al.
Pageof 13