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104 results

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Page 1
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.
Ruiz A, García-Villoria J, Ormazabal A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch R, Vilaseca MA, Ribes A. Ruiz A, et al. Among authors: ormazabal a. Mol Genet Metab. 2008 Feb;93(2):216-8. doi: 10.1016/j.ymgme.2007.10.003. Epub 2007 Nov 19. Mol Genet Metab. 2008. PMID: 18024216
Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods.
Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, García-Cazorla A, Ormazabal A, Urpi-Sarda M. Garcia-Arenas D, et al. Among authors: ormazabal a. Nutrients. 2023 Aug 6;15(15):3475. doi: 10.3390/nu15153475. Nutrients. 2023. PMID: 37571412 Free PMC article.
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: ormazabal a. Brain. 2024 Feb 21:awae041. doi: 10.1093/brain/awae041. Online ahead of print. Brain. 2024. PMID: 38380699
Malabsorption of carbohydrates and depression in children and adolescents.
Varea V, de Carpi JM, Puig C, Alda JA, Camacho E, Ormazabal A, Artuch R, Gómez L. Varea V, et al. Among authors: ormazabal a. J Pediatr Gastroenterol Nutr. 2005 May;40(5):561-5. doi: 10.1097/01.mpg.0000153005.61234.28. J Pediatr Gastroenterol Nutr. 2005. PMID: 15861016
[Inborn errors of neurotransmitters in neuropaediatrics].
García-Cazorla A, Ormazábal A, Artuch R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E, Campistol J. García-Cazorla A, et al. Among authors: ormazabal a. Rev Neurol. 2005 Jul 16-31;41(2):99-108. Rev Neurol. 2005. PMID: 16028189 Free article. Review. Spanish.
Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency.
Møller LB, Romstad A, Paulsen M, Hougaard P, Ormazabal A, Pineda M, Blau N, Güttler F, Artuch R. Møller LB, et al. Among authors: ormazabal a. Prenat Diagn. 2005 Aug;25(8):671-5. doi: 10.1002/pd.1193. Prenat Diagn. 2005. PMID: 16049992
104 results