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99 results

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Page 1
"Geographical distribution of risk genotypes in pediatric patients with celiac disease in Spain".
Sánchez-Valverde F, Martínez-Ojinaga E, Donat E, Bodas A, Bandrés E, Torres R, Ibáñez B, Cilleruelo ML, Castillejo G, Pérez-Solis D, Ochoa C, Eizaguirre FJ, García S, García JI, Barrio J, Vecino R, Miranda MDC, Juste M, Salazar JC, Armas H, Ortigosa L, Urruzuno P, García Z, Balmaseda E, Martinez-Costa C, La Orden E, Codoñer P, Roca A, Trillo C, Sebastian M, García R, Peña-Quintana L, Barros P, Soria M, García R, Pérez-Moneo B, Polanco I, Ribes C, Román E; Collaborators. Sánchez-Valverde F, et al. Among authors: pena quintana l. Hum Immunol. 2023 Apr;84(4):290-295. doi: 10.1016/j.humimm.2023.01.010. Epub 2023 Feb 28. Hum Immunol. 2023. PMID: 36858916
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Kölker S, et al. J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. J Inherit Metab Dis. 2015. PMID: 25875215
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG. Kölker S, et al. J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. J Inherit Metab Dis. 2015. PMID: 26077421 No abstract available.
The nutritional requirements of infants. Towards EU alignment of reference values: the EURRECA network.
Hermoso M, Tabacchi G, Iglesia-Altaba I, Bel-Serrat S, Moreno-Aznar LA, García-Santos Y, García-Luzardo Mdel R, Santana-Salguero B, Peña-Quintana L, Serra-Majem L, Moran VH, Dykes F, Decsi T, Benetou V, Plada M, Trichopoulou A, Raats MM, Doets EL, Berti C, Cetin I, Koletzko B. Hermoso M, et al. Matern Child Nutr. 2010 Oct;6 Suppl 2(Suppl 2):55-83. doi: 10.1111/j.1740-8709.2010.00262.x. Matern Child Nutr. 2010. PMID: 22296251 Free PMC article. Review.
Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group.
Merinero B, Pérez B, Pérez-Cerdá C, Rincón A, Desviat LR, Martínez MA, Sala PR, García MJ, Aldamiz-Echevarría L, Campos J, Cornejo V, Del Toro M, Mahfoud A, Martínez-Pardo M, Parini R, Pedrón C, Peña-Quintana L, Pérez M, Pourfarzam M, Ugarte M. Merinero B, et al. J Inherit Metab Dis. 2008 Feb;31(1):55-66. doi: 10.1007/s10545-007-0667-y. Epub 2007 Oct 22. J Inherit Metab Dis. 2008. PMID: 17957493
HDL cholesterol levels in children with mild hypercholesterolemia: effect of consuming skim milk enriched with olive oil and modulation by the TAQ 1B polymorphism in the CETP gene.
Estévez-González MD, Saavedra-Santana P, López-Ríos L, Chirino R, Cebrero-García E, Peña-Quintana L, Betancor-León P. Estévez-González MD, et al. Ann Nutr Metab. 2010;56(4):288-93. doi: 10.1159/000290405. Epub 2010 Apr 22. Ann Nutr Metab. 2010. PMID: 20413969 Clinical Trial.
Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P. Kölker S, et al. J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. J Inherit Metab Dis. 2015. PMID: 26077420 No abstract available.
99 results