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Showing results (51-60 of 66) with videos related to

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Critical Care Clinics|October 18, 2005
Urea cycle disorders: clinical presentation outside the newborn periodWendy Smith, Priya S Kishnani, Brendan Lee, et al.
The Journal of Clinical Investigation|June 1, 1995
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patientsT Aoyama, M Souri, S Ushikubo, et al.
Critical Care Clinics|October 18, 2005
Unmasked adult-onset urea cycle disorders in the critical care settingMarshall L Summar, Frederick Barr, Sheila Dawling, et al.
Clinical Chemistry|July 4, 2009
National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summaryDennis J Dietzen, Piero Rinaldo, Ronald J Whitley, et al.
Human Molecular Genetics|September 1, 1997
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficienciesC L Kelly, W J Rhead, W K Kutschke, et al.
The Journal of Pediatrics|July 1, 1989
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibshipF A Booth, J C Haworth, L A Dilling, et al.
Pediatric Neurology|March 1, 1991
Defect in fatty acid oxidation: laboratory and pathologic findings in a patientJ H Tonsgard, J K Stephens, W J Rhead, et al.
Biochemical and Biophysical Research Communications|August 31, 1990
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyY Matsubara, K Narisawa, S Miyabayashi, et al.
American Journal of Obstetrics and Gynecology|April 16, 1999
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case findingW B Hanley, L D Platt, R P Bachman, et al.
Journal of Magnetic Resonance Imaging : JMRI|September 25, 2004
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore, Frank Ye, Marie-Luise Brennan, et al.
Pageof 7

Showing results (51-60 of 66) with videos related to

Sort By:
Pageof 7
Critical Care Clinics|October 18, 2005
Urea cycle disorders: clinical presentation outside the newborn periodWendy Smith, Priya S Kishnani, Brendan Lee, et al.
The Journal of Clinical Investigation|June 1, 1995
Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patientsT Aoyama, M Souri, S Ushikubo, et al.
Critical Care Clinics|October 18, 2005
Unmasked adult-onset urea cycle disorders in the critical care settingMarshall L Summar, Frederick Barr, Sheila Dawling, et al.
Clinical Chemistry|July 4, 2009
National academy of clinical biochemistry laboratory medicine practice guidelines: follow-up testing for metabolic disease identified by expanded newborn screening using tandem mass spectrometry; executive summaryDennis J Dietzen, Piero Rinaldo, Ronald J Whitley, et al.
Human Molecular Genetics|September 1, 1997
Functional correction of short-chain acyl-CoA dehydrogenase deficiency in transgenic mice: implications for gene therapy of human mitochondrial enzyme deficienciesC L Kelly, W J Rhead, W K Kutschke, et al.
The Journal of Pediatrics|July 1, 1989
Mitochondrial encephalomyopathy with associated aminoacidopathy in a male sibshipF A Booth, J C Haworth, L A Dilling, et al.
Pediatric Neurology|March 1, 1991
Defect in fatty acid oxidation: laboratory and pathologic findings in a patientJ H Tonsgard, J K Stephens, W J Rhead, et al.
Biochemical and Biophysical Research Communications|August 31, 1990
Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiencyY Matsubara, K Narisawa, S Miyabayashi, et al.
American Journal of Obstetrics and Gynecology|April 16, 1999
Undiagnosed maternal phenylketonuria: the need for prenatal selective screening or case findingW B Hanley, L D Platt, R P Bachman, et al.
Journal of Magnetic Resonance Imaging : JMRI|September 25, 2004
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging studyDavid F Moore, Frank Ye, Marie-Luise Brennan, et al.
Pageof 7