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American Journal of Human Genetics
|
December 1, 1991
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
I Yokota, P M Coates, D E Hale, et al.
Biomedical Mass Spectrometry
|
September 1, 1985
Hydroxyl negative chemical ionization mass spectrometry linked with collisionally activated decomposition. A modern analytical tool in inborn errors of metabolism
P Rinaldo, G Miolo, L Chiandetti, et al.
Seminars in Perinatology
|
May 20, 1999
Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders
P Rinaldo, H R Yoon, C Yu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 3, 2001
Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry
M J Magera, A L Stoor, J K Helgeson, et al.
Genomics
|
March 15, 1997
Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP)
A Chew, E A Buck, S Peretz, et al.
Rapid Communications in Mass Spectrometry : RCM
|
May 1, 1990
Identification of 2-(2'-octenyl) succinic acid in urine
G Giordano, W J McMurray, S F Previs, et al.
Neurology
|
August 1, 1986
Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment
C Angelini, N Bresolin, G Pegolo, et al.
Pediatric Research
|
January 1, 1996
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation
M J Bennett, M J Weinberger, J A Kobori, et al.
Annals of Clinical and Laboratory Science
|
May 8, 2001
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry
P C Kao, D A Machacek, M J Magera, et al.
European Journal of Pediatrics
|
November 1, 1993
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria
A C Sewell, J Herwig, H Böhles, et al.
Page
of 10
Search research articles
Search
Showing results (31-40 of 95) with videos related to
Sort By:
Page
of 10
American Journal of Human Genetics
|
December 1, 1991
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
I Yokota, P M Coates, D E Hale, et al.
Biomedical Mass Spectrometry
|
September 1, 1985
Hydroxyl negative chemical ionization mass spectrometry linked with collisionally activated decomposition. A modern analytical tool in inborn errors of metabolism
P Rinaldo, G Miolo, L Chiandetti, et al.
Seminars in Perinatology
|
May 20, 1999
Sudden and unexpected neonatal death: a protocol for the postmortem diagnosis of fatty acid oxidation disorders
P Rinaldo, H R Yoon, C Yu, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry
|
April 3, 2001
Determination of homovanillic acid in urine by stable isotope dilution and electrospray tandem mass spectrometry
M J Magera, A L Stoor, J K Helgeson, et al.
Genomics
|
March 15, 1997
Cloning, expression, and chromosomal assignment of the human mitochondrial intermediate peptidase gene (MIPEP)
A Chew, E A Buck, S Peretz, et al.
Rapid Communications in Mass Spectrometry : RCM
|
May 1, 1990
Identification of 2-(2'-octenyl) succinic acid in urine
G Giordano, W J McMurray, S F Previs, et al.
Neurology
|
August 1, 1986
Childhood encephalomyopathy with cytochrome c oxidase deficiency, ataxia, muscle wasting, and mental impairment
C Angelini, N Bresolin, G Pegolo, et al.
Pediatric Research
|
January 1, 1996
Mitochondrial short-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: a new defect of fatty acid oxidation
M J Bennett, M J Weinberger, J A Kobori, et al.
Annals of Clinical and Laboratory Science
|
May 8, 2001
Diagnosis of adrenal cortical dysfunction by liquid chromatography-tandem mass spectrometry
P C Kao, D A Machacek, M J Magera, et al.
European Journal of Pediatrics
|
November 1, 1993
A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria
A C Sewell, J Herwig, H Böhles, et al.
Page
of 10