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582 results

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Page 1
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: longo n. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Jumbo-Lucioni PP, et al. Among authors: longo n. J Inherit Metab Dis. 2012 Nov;35(6):1037-49. doi: 10.1007/s10545-012-9477-y. Epub 2012 Mar 27. J Inherit Metab Dis. 2012. PMID: 22450714 Free PMC article.
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring.
Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Stockler-Ipsiroglu S, et al. Among authors: longo n. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. Mol Genet Metab. 2014. PMID: 24268530 Free article.
Effects of triheptanoin (UX007) in patients with long-chain fatty acid oxidation disorders: Results from an open-label, long-term extension study.
Vockley J, Burton B, Berry G, Longo N, Phillips J, Sanchez-Valle A, Chapman K, Tanpaiboon P, Grunewald S, Murphy E, Lu X, Cataldo J. Vockley J, et al. Among authors: longo n. J Inherit Metab Dis. 2021 Jan;44(1):253-263. doi: 10.1002/jimd.12313. Epub 2020 Sep 14. J Inherit Metab Dis. 2021. PMID: 32885845 Free PMC article. Clinical Trial.
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Tseng LA, Abdenur JE, Andrews A, Aziz VG, Bok LA, Boyer M, Buhas D, Hartmann H, Footitt EJ, Grønborg S, Janssen MCH, Longo N, Lunsing RJ, MacKenzie AE, Wijburg FA, Gospe SM Jr, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: longo n. Mol Genet Metab. 2022 Apr;135(4):350-356. doi: 10.1016/j.ymgme.2022.02.005. Epub 2022 Feb 17. Mol Genet Metab. 2022. PMID: 35279367
Clinical Reasoning: Pediatric Seizures of Unknown Cause.
Tseng LA, Hoytema van Konijnenburg EMM, Longo N, Andrews A, van Wegberg A, Coene KLM, Coughlin CR 2nd, van Karnebeek CDM. Tseng LA, et al. Among authors: longo n. Neurology. 2022 Jun 14;98(24):1023-1028. doi: 10.1212/WNL.0000000000200711. Epub 2022 Apr 25. Neurology. 2022. PMID: 35470136
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.
Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM Jr, van Karnebeek C; International PDE Consortium. Coughlin CR, et al. Among authors: longo n. Neurology. 2022 Dec 5;99(23):e2627-e2636. doi: 10.1212/WNL.0000000000201222. Neurology. 2022. PMID: 36008148 Free PMC article.
582 results