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Page 1
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Tangeraas T, Constante JR, Backe PH, Oyarzábal A, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, De Los Santos M, López JM, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal A, Stoway SD, Artuch R, Dixon M, Mørkrid L, García-Cazorla A. Tangeraas T, et al. Among authors: rodriguez pombo p. Brain. 2023 Jul 3;146(7):3003-3013. doi: 10.1093/brain/awad010. Brain. 2023. PMID: 36729635
Creatine transporter deficiency in two adult patients with static encephalopathy.
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch R, Campistol J. Sempere A, et al. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S91-6. doi: 10.1007/s10545-009-1083-2. Epub 2009 Mar 25. J Inherit Metab Dis. 2009. PMID: 19319661 Review.
[Cerebral creatine deficiency: first Spanish patients harbouring mutations in GAMT gene].
Sempere A, Fons C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol J, Artuch R. Sempere A, et al. Med Clin (Barc). 2009 Nov 21;133(19):745-9. doi: 10.1016/j.medcli.2009.06.065. Epub 2009 Nov 5. Med Clin (Barc). 2009. PMID: 19892372 Spanish.
Defining the pathogenicity of creatine deficiency syndrome.
Alcaide P, Merinero B, Ruiz-Sala P, Richard E, Navarrete R, Arias A, Ribes A, Artuch R, Campistol J, Ugarte M, Rodríguez-Pombo P. Alcaide P, et al. Hum Mutat. 2011 Mar;32(3):282-91. doi: 10.1002/humu.21421. Epub 2011 Feb 8. Hum Mutat. 2011. PMID: 21140503
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.
García-Cazorla A, Oyarzabal A, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, Lopez-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch R, Palacín M, Rodríguez-Pombo P, Alcaide P, Navarrete R, Sanz P, Font-Llitjós M, Vilaseca MA, Ormaizabal A, Pristoupilova A, Agulló SB. García-Cazorla A, et al. Hum Mutat. 2014 Apr;35(4):470-7. doi: 10.1002/humu.22513. Epub 2014 Mar 5. Hum Mutat. 2014. PMID: 24449431
Thiamine transporter-2 deficiency: outcome and treatment monitoring.
Ortigoza-Escobar JD, Serrano M, Molero M, Oyarzabal A, Rebollo M, Muchart J, Artuch R, Rodríguez-Pombo P, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Orphanet J Rare Dis. 2014 Jun 23;9:92. doi: 10.1186/1750-1172-9-92. Orphanet J Rare Dis. 2014. PMID: 24957181 Free PMC article.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B. Ortigoza-Escobar JD, et al. Brain. 2016 Jan;139(Pt 1):31-8. doi: 10.1093/brain/awv342. Epub 2015 Dec 10. Brain. 2016. PMID: 26657515 Clinical Trial.
66 results