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Page 1
PREPL deficiency: delineation of the phenotype and development of a functional blood assay.
Régal L, Mårtensson E, Maystadt I, Voermans N, Lederer D, Burlina A, Juan Fita MJ, Hoogeboom AJM, Olsson Engman M, Hollemans T, Schouten M, Meulemans S, Jonson T, François I, Gil Ortega D, Kamsteeg EJ, Creemers JWM. Régal L, et al. Among authors: gil ortega d. Genet Med. 2018 Jan;20(1):109-118. doi: 10.1038/gim.2017.74. Epub 2017 Jul 20. Genet Med. 2018. PMID: 28726805 Free article.
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Among authors: gil ortega d. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.
Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J, Chakrapani A. Valayannopoulos V, et al. Among authors: gil ortega d. Orphanet J Rare Dis. 2016 Mar 31;11:32. doi: 10.1186/s13023-016-0406-2. Orphanet J Rare Dis. 2016. PMID: 27030250 Free PMC article. Clinical Trial.
Direct percutaneous endoscopic jejunostomy in pediatric age with a pexies triangulation system: report of a case and literature review.
Alberca-de-Las-Parras F, Navalón-Rubio M, Egea-Valenzuela J, Álvarez-Higueras FJ, Antón-Ródenas G, Alajarín-Cervera M, Serrano-Giménez A, Gil-Ortega D, Muñoz-Tornero M, Ono-Ono A, Carballo-Álvarez LF. Alberca-de-Las-Parras F, et al. Among authors: gil ortega d. Rev Esp Enferm Dig. 2015 Apr;107(4):240-2. Rev Esp Enferm Dig. 2015. PMID: 25824927 Free article.
[A real-world study focused on the effectiveness and safety of adalimumab as first-line anti-TNF treatment for pediatric Crohn's disease].
Navas-López VM, Pujol Muncunill G, Llerena E, Navalón Rubio M, Gil-Ortega D, Varea-Calderón V, Sierra Salinas C, Martin-de-Carpi J. Navas-López VM, et al. Among authors: gil ortega d. An Pediatr (Engl Ed). 2018 Feb;88(2):89-99. doi: 10.1016/j.anpedi.2017.01.013. Epub 2017 Apr 21. An Pediatr (Engl Ed). 2018. PMID: 28434894 Free article. Spanish.
Spanish National Registry of Paediatric Coeliac Disease: Changes in the Clinical Presentation in the 21st Century.
Pérez Solís D, Cilleruelo Pascual ML, Ochoa Sangrador C, García Burriel JI, Sánchez-Valverde Visus F, Eizaguirre Arocena FJ, Garcia Calatayud S, Martinez-Ojinaga Nodal E, Donat Aliaga E, Barrio Torres J, Castillejo de Villasante G, Miranda Cid MDC, Torres Peral R, Vecino Lopez R, Juste Ruiz M, Armas Ramos H, Barros Garcia P, Leis Trabazo R, Solaguren Alberdi R, Salazar Quero JC, Garcia Romero R, Ortigosa Del Clastillo L, Peña Quintana L, Urruzuno Telleria P, Codoñer Franch P, Garcia Casales Z, Masiques Mas ML, Galicia Poblet G, Martinez Costa C, Balmaseda Serrano E, Polanco Allué I, Ribes Koninck C, Román Riechmann E; Coeliac Disease Working Group of the Spanish Gastroenterology, Hepatology, Paediatric Nutrition Society (SEGHNP). Pérez Solís D, et al. J Pediatr Gastroenterol Nutr. 2022 Jun 1;74(6):805-811. doi: 10.1097/MPG.0000000000003424. Epub 2022 Mar 2. J Pediatr Gastroenterol Nutr. 2022. PMID: 35192578
Analysis of the Spanish national registry for pediatric home enteral nutrition (NEPAD): implementation rates and observed trends during the past 8 years.
Pedrón-Giner C, Navas-López VM, Martínez-Zazo AB, Martínez-Costa C, Sánchez-Valverde F, Blasco-Alonso J, Moreno-Villares JM, Redecillas-Ferreiro S, Canals-Badía MJ, Rosell-Camps A, Gil-Ortega D, Gómez-López L, García-Romero R, Gutierrez-Junquera C, Balmaseda-Serrano EM, Bousoño-García C, Marugán-Miguelsanz JM, Peña-Quintana L, González-Santana D, López-Ruzafa E, Chicano-Marín FJ, Cabrera-Rodriguez R, Murray-Hurtado M, Pérez-Moneo B. Pedrón-Giner C, et al. Among authors: gil ortega d. Eur J Clin Nutr. 2013 Apr;67(4):318-23. doi: 10.1038/ejcn.2013.8. Epub 2013 Feb 6. Eur J Clin Nutr. 2013. PMID: 23388671
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Molema F, Gleich F, Burgard P, van der Ploeg AT, Summar ML, Chapman KA, Lund AM, Rizopoulos D, Kölker S, Williams M; Additional individual contributors from E-IMD. Molema F, et al. Mol Genet Metab. 2019 Apr;126(4):397-405. doi: 10.1016/j.ymgme.2019.02.003. Epub 2019 Feb 25. Mol Genet Metab. 2019. PMID: 30827756
[Nutrition status on pediatric admissions in Spanish hospitals; DHOSPE study].
Moreno Villares JM, Varea Calderón V, Bousoño García C, Lama Moré R, Redecillas Ferreiro S, Peña Quintana L; Sociedad Española de Gastroenterología. Moreno Villares JM, et al. Nutr Hosp. 2013 May-Jun;28(3):709-18. doi: 10.3305/nh.2013.28.3.6356. Nutr Hosp. 2013. PMID: 23848094 Free article. Spanish.
12 results