Thomas JA - Search Results

1

Induction, titration, and maintenance dosing regimen in a phase 2 study of pegvaliase for control of blood phenylalanine in adults with phenylketonuria.

Zori R, Thomas JA, Shur N, Rizzo WB, Decker C, Rosen O, Li M, Schweighardt B, Larimore K, Longo N. Zori R, et al. Among authors: thomas ja. Mol Genet Metab. 2018 Nov;125(3):217-227. doi: 10.1016/j.ymgme.2018.06.010. Epub 2018 Aug 23. Mol Genet Metab. 2018. PMID: 30146451 Clinical Trial.

2

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS).

Burton BK, Whiteman DA; HOS Investigators. Burton BK, et al. Mol Genet Metab. 2011 Jun;103(2):113-20. doi: 10.1016/j.ymgme.2011.02.018. Epub 2011 Mar 4. Mol Genet Metab. 2011. PMID: 21439875

3

Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria.

Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Keating AK, et al. Among authors: thomas ja. Mol Genet Metab. 2011 Aug;103(4):330-7. doi: 10.1016/j.ymgme.2011.04.012. Epub 2011 May 5. Mol Genet Metab. 2011. PMID: 21601502 Free PMC article.

4

Evolving patient selection and clinical benefit criteria for sapropterin dihydrochloride (Kuvan®) treatment of PKU patients.

Gordon P, Thomas JA, Suter R, Jurecki E. Gordon P, et al. Among authors: thomas ja. Mol Genet Metab. 2012 Apr;105(4):672-6. doi: 10.1016/j.ymgme.2011.12.023. Epub 2012 Jan 8. Mol Genet Metab. 2012. PMID: 22310224

5

Impact of geographic access to care on compliance and metabolic control in phenylketonuria.

Freehauf C, Van Hove JL, Gao D, Bernstein L, Thomas JA. Freehauf C, et al. Among authors: thomas ja. Mol Genet Metab. 2013 Jan;108(1):13-7. doi: 10.1016/j.ymgme.2012.09.026. Epub 2012 Oct 8. Mol Genet Metab. 2013. PMID: 23177662

6

Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.

Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety Registry. Longo N, et al. Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16. Mol Genet Metab. 2015. PMID: 25724073 Free article.

7

221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.

Bentler K, Zhai S, Elsbecker SA, Arnold GL, Burton BK, Vockley J, Cameron CA, Hiner SJ, Edick MJ, Berry SA; Inborn Errors of Metabolism Collaborative. Bentler K, et al. Mol Genet Metab. 2016 Sep;119(1-2):75-82. doi: 10.1016/j.ymgme.2016.07.002. Epub 2016 Jul 15. Mol Genet Metab. 2016. PMID: 27477829 Free PMC article.

8

Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM).

Thomas J, Levy H, Amato S, Vockley J, Zori R, Dimmock D, Harding CO, Bilder DA, Weng HH, Olbertz J, Merilainen M, Jiang J, Larimore K, Gupta S, Gu Z, Northrup H; PRISM investigators. Thomas J, et al. Mol Genet Metab. 2018 May;124(1):27-38. doi: 10.1016/j.ymgme.2018.03.006. Epub 2018 Mar 31. Mol Genet Metab. 2018. PMID: 29653686 Free article. Clinical Trial.

9

Long-term safety and efficacy of pegvaliase for the treatment of phenylketonuria in adults: combined phase 2 outcomes through PAL-003 extension study.

Longo N, Zori R, Wasserstein MP, Vockley J, Burton BK, Decker C, Li M, Lau K, Jiang J, Larimore K, Thomas JA. Longo N, et al. Among authors: thomas ja. Orphanet J Rare Dis. 2018 Jul 4;13(1):108. doi: 10.1186/s13023-018-0858-7. Orphanet J Rare Dis. 2018. PMID: 29973227 Free PMC article. Clinical Trial.

10

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Longo N, Dimmock D, Levy H, Viau K, Bausell H, Bilder DA, Burton B, Gross C, Northrup H, Rohr F, Sacharow S, Sanchez-Valle A, Stuy M, Thomas J, Vockley J, Zori R, Harding CO. Longo N, et al. Genet Med. 2019 Aug;21(8):1851-1867. doi: 10.1038/s41436-018-0403-z. Epub 2018 Dec 14. Genet Med. 2019. PMID: 30546086 Free PMC article.

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