Search

Author/Creator Zori, Roberto

2. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate1. Issue 6 (3rd January 2013)

Authors:
Diaz, George A.; Krivitzky, Lauren S.; Mokhtarani, Masoud; Rhead, William; Bartley, James; Feigenbaum, Annette; Longo, Nicola; Berquist, William; Berry, Susan A.; Gallagher, Renata; Lichter‐Konecki, Uta; Bartholomew, Dennis; Harding, Cary O.; Cederbaum, Stephen; McCandless, Shawn E.; Smith, Wendy...
Journal:
Hepatology
Issue:
Volume 57:Issue 6(2013:Jun.)
Page Start:
2171
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content. (23rd March 2020)

Authors:
Woldegebriel, Rosa; Kvist, Jouni; Andersson, Noora; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Bijlsma, Emilia K; Hoffer, Mariëtte J V; Ryan, Monique M; Stark, Zornitza; Walsh, Maie; Cuppen, Inge; van den Boogaard, Marie-Jose´ H; Bharucha-Goebel, Diana; Donkervoort, Sandra; Winchester, Sara...
Journal:
Human molecular genetics
Issue:
Volume 29:Number 9(2020)
Page Start:
1426
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria. Issue 5 (31st May 2021)

Authors:
Qi, Yulan; Patel, Gina; Henshaw, Joshua; Gupta, Soumi; Olbertz, Joy; Larimore, Kevin; Harding, Cary O.; Merilainen, Markus; Zori, Roberto; Longo, Nicola; Burton, Barbara K.; Li, Mingjin; Gu, Zhonghua; Zoog, Stephen J.; Weng, Haoling H.; Schweighardt, Becky
Journal:
Clinical and translational science
Issue:
Volume 14:Issue 5(2021)
Page Start:
1894
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗