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Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
May 12, 2004
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
A Dervent, K M Gibson, P L Pearl, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids
E Christensen, S A Pedersen, H Leth, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Liver transplantation in two children with tyrosinaemia type I: biochemical aspects
E Riudor, A Ribes, J Lloret, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 15, 1984
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid
C Jakobs, L Sweetman, W L Nyhan, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
The metabolism of phytanic acid and pristanic acid in man: a review
N M Verhoeven, R J Wanders, B T Poll-The, et al.
The Journal of Cell Biology
|
October 26, 2005
Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice
Tatjana C Jakobs, Richard T Libby, Yixin Ben, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Spontaneous pregnancy in a patient with classical galactosaemia
S de Jongh, P Vreken, L IJst, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 30, 1990
Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography
F Stellaard, H J ten Brink, R M Kok, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening
C Jakobs, C M van den Heuvel, F Stellaard, et al.
Biochemical and Biophysical Research Communications
|
August 8, 1997
Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA
N M Verhoeven, D S Schor, H J ten Brink, et al.
Page
of 42
Search research articles
Search
Showing results (161-170 of 417) with videos related to
Sort By:
Page
of 42
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology
|
May 12, 2004
Photosensitive absence epilepsy with myoclonias and heterozygosity for succinic semialdehyde dehydrogenase (SSADH) deficiency
A Dervent, K M Gibson, P L Pearl, et al.
Journal of Inherited Metabolic Disease
|
November 5, 1997
A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids
E Christensen, S A Pedersen, H Leth, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1991
Liver transplantation in two children with tyrosinaemia type I: biochemical aspects
E Riudor, A Ribes, J Lloret, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 15, 1984
Stable isotope dilution analysis of orotic acid and uracil in amniotic fluid
C Jakobs, L Sweetman, W L Nyhan, et al.
Journal of Inherited Metabolic Disease
|
November 20, 1998
The metabolism of phytanic acid and pristanic acid in man: a review
N M Verhoeven, R J Wanders, B T Poll-The, et al.
The Journal of Cell Biology
|
October 26, 2005
Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice
Tatjana C Jakobs, Richard T Libby, Yixin Ben, et al.
Journal of Inherited Metabolic Disease
|
September 3, 1999
Spontaneous pregnancy in a patient with classical galactosaemia
S de Jongh, P Vreken, L IJst, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
November 30, 1990
Stable isotope dilution analysis of very long chain fatty acids in plasma, urine and amniotic fluid by electron capture negative ion mass fragmentography
F Stellaard, H J ten Brink, R M Kok, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1993
Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening
C Jakobs, C M van den Heuvel, F Stellaard, et al.
Biochemical and Biophysical Research Communications
|
August 8, 1997
Resolution of the phytanic acid alpha-oxidation pathway: identification of pristanal as product of the decarboxylation of 2-hydroxyphytanoyl-CoA
N M Verhoeven, D S Schor, H J ten Brink, et al.
Page
of 42