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362 results

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Page 1
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.
Harding CO, Longo N, Northrup H, Sacharow S, Singh R, Thomas JA, Vockley J, Zori RT, Bulloch Whitehall K, Lilienstein J, Lindstrom K, Levy DG, Jones S, Burton BK. Harding CO, et al. Among authors: vockley j. Mol Genet Metab Rep. 2024 Apr 23;39:101084. doi: 10.1016/j.ymgmr.2024.101084. eCollection 2024 Jun. Mol Genet Metab Rep. 2024. PMID: 38694233 Free PMC article.
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.
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB; Sapropterin Study Group. Trefz FK, et al. Among authors: vockley j. J Pediatr. 2009 May;154(5):700-7. doi: 10.1016/j.jpeds.2008.11.040. Epub 2009 Mar 4. J Pediatr. 2009. PMID: 19261295 Clinical Trial.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: vockley j. J Inherit Metab Dis. 2024 Apr 16. doi: 10.1002/jimd.12738. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38623632
Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD Odyssey program.
Yang E, Kruger E, Yin D, Mace K, Tierney M, Liao N, Cibelli E, Drozd D, Ross N, Deering KL, Herout P, Harshaw Q, Shillington A, Thomas N, Marsden D, Kritzer A, Vockley J. Yang E, et al. Among authors: vockley j. Mol Genet Metab. 2024 May;142(1):108350. doi: 10.1016/j.ymgme.2024.108350. Epub 2024 Feb 23. Mol Genet Metab. 2024. PMID: 38458123 Free article.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: vockley j. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Among authors: vockley j. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: vockley j. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
362 results