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Prenatal Diagnosis
|
June 1, 1993
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk
C Pérez-Cerdá, B Merinero, A Jiménez, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection
R J Wanders, G J Romeijn, F Wijburg, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases
M Casteels, C W Van Roermund, L Schepers, et al.
Journal of the Neurological Sciences
|
December 1, 1988
Peroxisomal disorders in neurology
R J Wanders, H S Heymans, R B Schutgens, et al.
Acta Biologica Et Medica Germanica
|
January 1, 1981
Control mechanisms of energy-dependent metabolic pathways in hepatocytes
J M Tager, R J Wanders, A K Groen, et al.
Biochimica Et Biophysica Acta
|
October 16, 1999
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
G A Jansen, N M Verhoeven, S Denis, et al.
Human Molecular Genetics
|
August 11, 1999
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants
R Toyama, S Mukai, A Itagaki, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
P Vreken, F Valianpour, H Overmars, et al.
Biochemical and Biophysical Research Communications
|
July 16, 1986
Regulation of squalene synthetase activity in rat liver: elevation by cholestyramine, but no diurnal variation
L H Cohen, A M Griffioen, R J Wanders, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Z Rahbeeni, F M Vaz, K Al-Hussein, et al.
Page
of 50
Search research articles
Search
Showing results (281-290 of 497) with videos related to
Sort By:
Page
of 50
Prenatal Diagnosis
|
June 1, 1993
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk
C Pérez-Cerdá, B Merinero, A Jiménez, et al.
Journal of Inherited Metabolic Disease
|
July 1, 1997
Smith-Lemli-Opitz syndrome: deficient delta 7-reductase activity in cultured skin fibroblasts and chorionic villus fibroblasts and its application to pre- and postnatal detection
R J Wanders, G J Romeijn, F Wijburg, et al.
Journal of Inherited Metabolic Disease
|
January 1, 1989
Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases
M Casteels, C W Van Roermund, L Schepers, et al.
Journal of the Neurological Sciences
|
December 1, 1988
Peroxisomal disorders in neurology
R J Wanders, H S Heymans, R B Schutgens, et al.
Acta Biologica Et Medica Germanica
|
January 1, 1981
Control mechanisms of energy-dependent metabolic pathways in hepatocytes
J M Tager, R J Wanders, A K Groen, et al.
Biochimica Et Biophysica Acta
|
October 16, 1999
Phytanic acid alpha-oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes
G A Jansen, N M Verhoeven, S Denis, et al.
Human Molecular Genetics
|
August 11, 1999
Isolation, characterization and mutation analysis of PEX13-defective Chinese hamster ovary cell mutants
R Toyama, S Mukai, A Itagaki, et al.
Journal of Inherited Metabolic Disease
|
July 15, 2000
Analysis of plasmenylethanolamines using electrospray tandem mass spectrometry and its application in screening for peroxisomal disorders
P Vreken, F Valianpour, H Overmars, et al.
Biochemical and Biophysical Research Communications
|
July 16, 1986
Regulation of squalene synthetase activity in rat liver: elevation by cholestyramine, but no diurnal variation
L H Cohen, A M Griffioen, R J Wanders, et al.
Journal of Inherited Metabolic Disease
|
November 1, 2002
Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency
Z Rahbeeni, F M Vaz, K Al-Hussein, et al.
Page
of 50