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Showing results (181-190 of 417) with videos related to

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Biochimica Et Biophysica Acta|November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndromeR J Wanders, C W van Roermund, D S Schor, et al.
Biochimica Et Biophysica Acta|September 6, 2011
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studiesM Kranendijk, G S Salomons, K M Gibson, et al.
Pediatric Research|April 1, 1996
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitinesY Shigematsu, I Hata, A Nakai, et al.
The New England Journal of Medicine|March 21, 1996
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosisH Mandel, B Brenner, M Berant, et al.
Molecular Genetics and Metabolism|April 3, 2004
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one familyS Bekri, C Fossoud, G Plaza, et al.
Molecular Genetics and Metabolism|June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidaseH J ten Brink, B T Poll-The, J M Saudubray, et al.
Klinische Padiatrie|March 1, 2006
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]O Hussmann, D Haas, B A Neubauer, et al.
Prenatal Diagnosis|October 1, 1996
Amniotic fluid odd-chain fatty acids are increased in propionic acidaemiaM Coker, M Duran, J B De Klerk, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritanceK M Gibson, I Jansen, L Sweetman, et al.
Pageof 42

Showing results (181-190 of 417) with videos related to

Sort By:
Pageof 42
Biochimica Et Biophysica Acta|November 29, 1994
2-Hydroxyphytanic acid oxidase activity in rat and human liver and its deficiency in the Zellweger syndromeR J Wanders, C W van Roermund, D S Schor, et al.
Biochimica Et Biophysica Acta|September 6, 2011
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studiesM Kranendijk, G S Salomons, K M Gibson, et al.
Pediatric Research|April 1, 1996
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitinesY Shigematsu, I Hata, A Nakai, et al.
The New England Journal of Medicine|March 21, 1996
Coexistence of hereditary homocystinuria and factor V Leiden--effect on thrombosisH Mandel, B Brenner, M Berant, et al.
Molecular Genetics and Metabolism|April 3, 2004
The molecular basis of succinic semialdehyde dehydrogenase deficiency in one familyS Bekri, C Fossoud, G Plaza, et al.
Molecular Genetics and Metabolism|June 1, 2007
Mutation analysis a prerequisite for prenatal diagnosis of L-2-hydroxyglutaric aciduria?P Augoustides-Savvopoulou, G S Salomons, J Dotis, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidaseH J ten Brink, B T Poll-The, J M Saudubray, et al.
Klinische Padiatrie|March 1, 2006
[L-2-hydroxyglutaric aciduria -- a rare cause of macrocephaly]O Hussmann, D Haas, B A Neubauer, et al.
Prenatal Diagnosis|October 1, 1996
Amniotic fluid odd-chain fatty acids are increased in propionic acidaemiaM Coker, M Duran, J B De Klerk, et al.
Journal of Inherited Metabolic Disease|January 1, 1984
4-Hydroxybutyric aciduria: a new inborn error of metabolism. III. Enzymology and inheritanceK M Gibson, I Jansen, L Sweetman, et al.
Pageof 42