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S E McCandless

Showing results (11-20 of 16) with videos related to

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Molecular Genetics and Metabolism Reports|June 27, 2017
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrateM Mokhtarani, G A Diaz, U Lichter-Konecki, et al.
Journal of Inherited Metabolic Disease|July 23, 2003
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screeningD D Koeberl, D S Millington, W E Smith, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Molecular Genetics and Metabolism|November 21, 2015
Glutamine and hyperammonemic crises in patients with urea cycle disordersB Lee, G A Diaz, W Rhead, et al.
Molecular Genetics and Metabolism|October 23, 2013
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratioM Mokhtarani, G A Diaz, W Rhead, et al.
Molecular Genetics and Metabolism|September 11, 2012
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disordersM Mokhtarani, G A Diaz, W Rhead, et al.
Pageof 2

Showing results (11-20 of 16) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 16 results.
Molecular Genetics and Metabolism Reports|June 27, 2017
Urinary phenylacetylglutamine (U-PAGN) concentration as biomarker for adherence in patients with urea cycle disorders (UCD) treated with glycerol phenylbutyrateM Mokhtarani, G A Diaz, U Lichter-Konecki, et al.
Journal of Inherited Metabolic Disease|July 23, 2003
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screeningD D Koeberl, D S Millington, W E Smith, et al.
American Journal of Human Genetics|May 12, 2001
Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiencyB S Andresen, S F Dobrowolski, L O'Reilly, et al.
Molecular Genetics and Metabolism|November 21, 2015
Glutamine and hyperammonemic crises in patients with urea cycle disordersB Lee, G A Diaz, W Rhead, et al.
Molecular Genetics and Metabolism|October 23, 2013
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratioM Mokhtarani, G A Diaz, W Rhead, et al.
Molecular Genetics and Metabolism|September 11, 2012
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disordersM Mokhtarani, G A Diaz, W Rhead, et al.
Pageof 2