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S Packman

Showing results (71-80 of 98) with videos related to

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American Journal of Human Genetics|January 1, 1984
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiencyS Packman, N Caswell, M C Gonzalez-Rios, et al.
Lancet (London, England)|July 21, 1979
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunityM J Cowan, D W Wara, S Packman, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalaminG M Enns, A J Barkovich, D S Rosenblatt, et al.
Hepatology (Baltimore, Md.)|October 1, 1996
An international symposium on Wilson's and Menkes' diseasesP Ferenci, T C Gilliam, J D Gitlin, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal deathE Chen, W L Nyhan, C Jakobs, et al.
The Journal of Clinical Investigation|February 22, 2001
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiencyM R Baumgartner, S Almashanu, T Suormala, et al.
Pediatrics|December 1, 1984
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiencyK Johnston, C J Newth, K F Sheu, et al.
Clinical Genetics|September 7, 2005
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscleG M Enns, C L Hoppel, S J DeArmond, et al.
Prenatal Diagnosis|May 1, 1996
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemiaR Mandell, S Packman, R Laframboise, et al.
Clinical Genetics|June 2, 2007
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher diseaseN Weinreb, J Barranger, S Packman, et al.
Pageof 10

Showing results (71-80 of 98) with videos related to

Sort By:
Pageof 10
American Journal of Human Genetics|January 1, 1984
Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiencyS Packman, N Caswell, M C Gonzalez-Rios, et al.
Lancet (London, England)|July 21, 1979
Multiple biotin-dependent carboxylase deficiencies associated with defects in T-cell and B-cell immunityM J Cowan, D W Wara, S Packman, et al.
Journal of Inherited Metabolic Disease|July 10, 1999
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalaminG M Enns, A J Barkovich, D S Rosenblatt, et al.
Hepatology (Baltimore, Md.)|October 1, 1996
An international symposium on Wilson's and Menkes' diseasesP Ferenci, T C Gilliam, J D Gitlin, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal deathE Chen, W L Nyhan, C Jakobs, et al.
The Journal of Clinical Investigation|February 22, 2001
The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiencyM R Baumgartner, S Almashanu, T Suormala, et al.
Pediatrics|December 1, 1984
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiencyK Johnston, C J Newth, K F Sheu, et al.
Clinical Genetics|September 7, 2005
Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscleG M Enns, C L Hoppel, S J DeArmond, et al.
Prenatal Diagnosis|May 1, 1996
Use of amniotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemiaR Mandell, S Packman, R Laframboise, et al.
Clinical Genetics|June 2, 2007
Imiglucerase (Cerezyme) improves quality of life in patients with skeletal manifestations of Gaucher diseaseN Weinreb, J Barranger, S Packman, et al.
Pageof 10