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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 phenylbutyrate
M 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 screening
D 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 deficiency
B 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 disorders
B 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 ratio
M 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 disorders
M Mokhtarani, G A Diaz, W Rhead, et al.
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of 2
Search research articles
Search
Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 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 phenylbutyrate
M 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 screening
D 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 deficiency
B 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 disorders
B 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 ratio
M 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 disorders
M Mokhtarani, G A Diaz, W Rhead, et al.
Page
of 2