|
Waisbren, Susan E; Gropman, Andrea L; Members of the Urea Cycle Disorders Consortium (UCDC) et al. (2016) Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis 39:573-84
|
|
Lee, B; Diaz, G A; Rhead, W et al. (2016) Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab 117:27-32
|
|
Nagamani, Sandesh C S; Diaz, George A; Rhead, William et al. (2015) Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab 116:29-34
|
|
Waisbren, Susan E; He, Jianping; McCarter, Robert (2015) Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk. JIMD Rep 21:35-43
|
|
Ah Mew, Nicholas; McCarter, Robert; Daikhin, Yevgeny et al. (2014) Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. J Pediatr 165:401-403.e3
|
|
Berry, Susan A; Lichter-Konecki, Uta; Diaz, George A et al. (2014) Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab 112:17-24
|
|
Batshaw, Mark L; Groft, Stephen C; Krischer, Jeffrey P (2014) Research into rare diseases of childhood. JAMA 311:1729-30
|
|
Ah Mew, Nicholas; Krivitzky, Lauren; McCarter, Robert et al. (2013) Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr 162:324-9.e1
|
|
Mokhtarani, M; Diaz, G A; Rhead, W et al. (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. Mol Genet Metab 110:446-53
|
|
Gropman, Andrea L; Prust, Morgan; Breeden, Andrew et al. (2013) Urea cycle defects and hyperammonemia: effects on functional imaging. Metab Brain Dis 28:269-75
|
Showing the most recent 10 out of 65 publications
