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S I Goodman

Showing results (121-130 of 130) with videos related to

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Journal of Inherited Metabolic Disease|August 13, 1998
Diagnosis and management of glutaric aciduria type II Barić, J Zschocke, E Christensen, et al.
The Journal of Biological Chemistry|December 5, 1991
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidationR S Kler, S Jackson, K Bartlett, et al.
Clinical Chemistry|February 5, 2000
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidationP M Jones, R Quinn, P V Fennessey, et al.
Human Molecular Genetics|March 1, 1995
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type IC R Greenberg, D Reimer, R Singal, et al.
Acta Neuropathologica|January 1, 1988
Neuropathology in glutaric acidaemia type 1C W Chow, E A Haan, S I Goodman, et al.
Archives of Dermatology|January 8, 1998
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestationsR Howard, I J Frieden, D Crawford, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Persistent hypermethioninaemia with dominant inheritanceH J Blom, A J Davidson, J D Finkelstein, et al.
The Journal of Pediatrics|January 1, 1991
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindredsJ C Haworth, F A Booth, A E Chudley, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 3, 1999
Mitochondrial disease in superoxide dismutase 2 mutant miceS Melov, P Coskun, M Patel, et al.
Journal of Inherited Metabolic Disease|January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)S Kölker, E Christensen, J V Leonard, et al.
Pageof 13

Showing results (121-130 of 130) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 130 results.
Journal of Inherited Metabolic Disease|August 13, 1998
Diagnosis and management of glutaric aciduria type II Barić, J Zschocke, E Christensen, et al.
The Journal of Biological Chemistry|December 5, 1991
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidationR S Kler, S Jackson, K Bartlett, et al.
Clinical Chemistry|February 5, 2000
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidationP M Jones, R Quinn, P V Fennessey, et al.
Human Molecular Genetics|March 1, 1995
A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type IC R Greenberg, D Reimer, R Singal, et al.
Acta Neuropathologica|January 1, 1988
Neuropathology in glutaric acidaemia type 1C W Chow, E A Haan, S I Goodman, et al.
Archives of Dermatology|January 8, 1998
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestationsR Howard, I J Frieden, D Crawford, et al.
Journal of Inherited Metabolic Disease|January 1, 1992
Persistent hypermethioninaemia with dominant inheritanceH J Blom, A J Davidson, J D Finkelstein, et al.
The Journal of Pediatrics|January 1, 1991
Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindredsJ C Haworth, F A Booth, A E Chudley, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 3, 1999
Mitochondrial disease in superoxide dismutase 2 mutant miceS Melov, P Coskun, M Patel, et al.
Journal of Inherited Metabolic Disease|January 5, 2007
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I)S Kölker, E Christensen, J V Leonard, et al.
Pageof 13