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Journal of Mass Spectrometry : JMS
|
May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)
H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Nature Genetics
|
November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
G A Jansen, R Ofman, S Ferdinandusse, et al.
Journal of Internal Medicine
|
January 5, 2000
Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: the Hoorn Study
E K Hoogeveen, P J Kostense, G D Valk, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2006
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype
I A Anselm, I M Anselm, F S Alkuraya, et al.
Annals of Neurology
|
January 13, 2000
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution
M R Baumgartner, G A Jansen, N M Verhoeven, et al.
Molecular Genetics and Metabolism
|
January 31, 2006
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
E A Struys, N M Verhoeven, G S Salomons, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
Experimental Eye Research
|
January 1, 2022
Lamina cribrosa vessel and collagen beam networks are distinct
Susannah Waxman, Bryn L Brazile, Bin Yang, et al.
Amino Acids
|
May 27, 2011
Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
M Barroso, M S Rocha, R Esse, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2006
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
A A M Morris, R E Appleton, B Power, et al.
Page
of 42
Search research articles
Search
Showing results (371-380 of 417) with videos related to
Sort By:
Page
of 42
Journal of Mass Spectrometry : JMS
|
May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)
H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Nature Genetics
|
November 5, 1997
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
G A Jansen, R Ofman, S Ferdinandusse, et al.
Journal of Internal Medicine
|
January 5, 2000
Hyperhomocysteinaemia is not related to risk of distal somatic polyneuropathy: the Hoorn Study
E K Hoogeveen, P J Kostense, G D Valk, et al.
Journal of Inherited Metabolic Disease
|
April 8, 2006
X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype
I A Anselm, I M Anselm, F S Alkuraya, et al.
Annals of Neurology
|
January 13, 2000
Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution
M R Baumgartner, G A Jansen, N M Verhoeven, et al.
Molecular Genetics and Metabolism
|
January 31, 2006
D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?
E A Struys, N M Verhoeven, G S Salomons, et al.
The Netherlands Journal of Medicine
|
August 5, 2000
Clinical significance of low cobalamin levels in older hospital patients
D Z van Asselt, H J Blom, R Zuiderent, et al.
Experimental Eye Research
|
January 1, 2022
Lamina cribrosa vessel and collagen beam networks are distinct
Susannah Waxman, Bryn L Brazile, Bin Yang, et al.
Amino Acids
|
May 27, 2011
Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells
M Barroso, M S Rocha, R Esse, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2006
Guanidinoacetate methyltransferase deficiency masquerading as a mitochondrial encephalopathy
A A M Morris, R E Appleton, B Power, et al.
Page
of 42