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G A Diaz

Showing results (21-30 of 31) with videos related to

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Nature Genetics|May 10, 2000
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosusM Satoda, F Zhao, G A Diaz, et al.
Clinical Genetics|July 15, 2016
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variantsL Shi, B D Webb, A H Birch, et al.
Clinical Genetics|August 10, 2013
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish populationB D Webb, T Brandt, L Liu, et al.
Journal of Clinical Pharmacology|June 19, 2013
Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disordersJon P R Monteleone, M Mokhtarani, G A Diaz, et al.
Molecular Genetics and Metabolism|May 27, 2011
Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrateUta Lichter-Konecki, G A Diaz, J L Merritt, et al.
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.
Molecular Genetics and Metabolism|September 4, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disordersJ Vockley, J Charrow, J Ganesh, et al.
American Journal of Human Genetics|April 25, 2000
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutationsG A Diaz, B D Gelb, N Risch, 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.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Nature Genetics|May 10, 2000
Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosusM Satoda, F Zhao, G A Diaz, et al.
Clinical Genetics|July 15, 2016
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variantsL Shi, B D Webb, A H Birch, et al.
Clinical Genetics|August 10, 2013
A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish populationB D Webb, T Brandt, L Liu, et al.
Journal of Clinical Pharmacology|June 19, 2013
Population pharmacokinetic modeling and dosing simulations of nitrogen-scavenging compounds: disposition of glycerol phenylbutyrate and sodium phenylbutyrate in adult and pediatric patients with urea cycle disordersJon P R Monteleone, M Mokhtarani, G A Diaz, et al.
Molecular Genetics and Metabolism|May 27, 2011
Ammonia control in children with urea cycle disorders (UCDs); phase 2 comparison of sodium phenylbutyrate and glycerol phenylbutyrateUta Lichter-Konecki, G A Diaz, J L Merritt, et al.
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.
Molecular Genetics and Metabolism|September 4, 2016
Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disordersJ Vockley, J Charrow, J Ganesh, et al.
American Journal of Human Genetics|April 25, 2000
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutationsG A Diaz, B D Gelb, N Risch, 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.
Pageof 4