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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.
Biochemical and Molecular Medicine|August 1, 1996
Fine mapping of the cystinosis gene using an integrated genetic and physical map of a region within human chromosome band 17p13G McDowell, T Isogai, A Tanigami, 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|April 18, 2000
The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patientsI Rivera, A Cabral, M Almeida, 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.
Clinical Genetics|December 22, 2017
Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impactJ Wynn, R Ottman, J Duong, 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.
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