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656 results

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Page 1
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC 2nd, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC. Burton BK, et al. Among authors: longo n. Mol Genet Metab. 2022 Sep-Oct;137(1-2):114-126. doi: 10.1016/j.ymgme.2022.07.012. Epub 2022 Jul 29. Mol Genet Metab. 2022. PMID: 36027720 Free article.
Expanded newborn screening identifies maternal primary carnitine deficiency.
Schimmenti LA, Crombez EA, Schwahn BC, Heese BA, Wood TC, Schroer RJ, Bentler K, Cederbaum S, Sarafoglou K, McCann M, Rinaldo P, Matern D, di San Filippo CA, Pasquali M, Berry SA, Longo N. Schimmenti LA, et al. Among authors: longo n. Mol Genet Metab. 2007 Apr;90(4):441-5. doi: 10.1016/j.ymgme.2006.10.003. Epub 2006 Nov 28. Mol Genet Metab. 2007. PMID: 17126586
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency.
Arnold GL, Koeberl DD, Matern D, Barshop B, Braverman N, Burton B, Cederbaum S, Fiegenbaum A, Garganta C, Gibson J, Goodman SI, Harding C, Kahler S, Kronn D, Longo N. Arnold GL, et al. Among authors: longo n. Mol Genet Metab. 2008 Apr;93(4):363-70. doi: 10.1016/j.ymgme.2007.11.002. Epub 2007 Dec 21. Mol Genet Metab. 2008. PMID: 18155630
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.
Arnold GL, Van Hove J, Freedenberg D, Strauss A, Longo N, Burton B, Garganta C, Ficicioglu C, Cederbaum S, Harding C, Boles RG, Matern D, Chakraborty P, Feigenbaum A. Arnold GL, et al. Among authors: longo n. Mol Genet Metab. 2009 Mar;96(3):85-90. doi: 10.1016/j.ymgme.2008.09.008. Epub 2009 Jan 20. Mol Genet Metab. 2009. PMID: 19157942 Free PMC article.
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Mokhtarani M, Diaz GA, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Bart S, Kronn D, Zori R, Cederbaum S, Dorrani N, Merritt JL 2nd, Sreenath-Nagamani S, Summar M, Lemons C, Dickinson K, Coakley DF, Moors TL, Lee B, Scharschmidt BF. Mokhtarani M, et al. Among authors: longo n. Mol Genet Metab. 2012 Nov;107(3):308-14. doi: 10.1016/j.ymgme.2012.08.006. Epub 2012 Aug 18. Mol Genet Metab. 2012. PMID: 22958974 Free PMC article. Clinical Trial.
Psychiatric symptoms in adults with phenylketonuria.
Bilder DA, Burton BK, Coon H, Leviton L, Ashworth J, Lundy BD, Vespa H, Bakian AV, Longo N. Bilder DA, et al. Among authors: longo n. Mol Genet Metab. 2013 Mar;108(3):155-60. doi: 10.1016/j.ymgme.2012.12.006. Epub 2012 Dec 31. Mol Genet Metab. 2013. PMID: 23339767
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial.
Longo N, Harding CO, Burton BK, Grange DK, Vockley J, Wasserstein M, Rice GM, Dorenbaum A, Neuenburg JK, Musson DG, Gu Z, Sile S. Longo N, et al. Lancet. 2014 Jul 5;384(9937):37-44. doi: 10.1016/S0140-6736(13)61841-3. Epub 2014 Apr 14. Lancet. 2014. PMID: 24743000 Free PMC article. Clinical Trial.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL 2nd, Schulze A, Vockley J, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M; UCD Consortium; Scharschmidt BF. Lee B, et al. Among authors: longo n. Genet Med. 2015 Jul;17(7):561-8. doi: 10.1038/gim.2014.148. Epub 2014 Dec 11. Genet Med. 2015. PMID: 25503497 Free PMC article.
656 results