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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: ruiz gomez ma. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C; EHOD consortium; Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla Olivas S, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J, Weisfeld-Adams J. Huemer M, et al. Among authors: ruiz gomez ma. J Inherit Metab Dis. 2019 Mar;42(2):333-352. doi: 10.1002/jimd.12041. Epub 2019 Feb 17. J Inherit Metab Dis. 2019. PMID: 30773687
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
[Type II lissencephaly: presentation of intermediate form].
Palomero-Domínguez MA, Ramos-Fernández JM, Domínguez-Santurino F, Ruiz-Gómez M. Palomero-Domínguez MA, et al. Among authors: ruiz gomez m. Rev Neurol. 1998 Oct;27(158):594-6. Rev Neurol. 1998. PMID: 9803503 Review. Spanish.
Extensive extra-osseous accumulation of (99m)Tc-hydroximethylene diphosphonate in a patient with unsuspected dermatomyositis: Whole-body scintigraphy and SPECT/CT.
Sainz Esteban A, González Selma ML, Ruiz-Gómez MÁ, García-Talavera San Miguel P, Gamazo Laherrán C, Olmos García R. Sainz Esteban A, et al. Among authors: ruiz gomez ma. Rev Esp Med Nucl Imagen Mol. 2014 Jul-Aug;33(4):255-6. doi: 10.1016/j.remn.2013.10.004. Epub 2014 Jan 14. Rev Esp Med Nucl Imagen Mol. 2014. PMID: 24438913 No abstract available.
Incidental finding on a SPECT/CT of a retroperitoneal leiomyosarcoma imitating a hiatal hernia in 131I whole-body scan in thyroid cancer evaluation.
Sainz-Esteban A, de Luis Román D, García-Talavera San Miguel P, Pacheco Sánchez D, González Selma ML, Ruiz Gómez MÁ, Gamazo Laherrán C, Villanueva Curto JG, Olmos García R. Sainz-Esteban A, et al. Among authors: ruiz gomez ma. Rev Esp Med Nucl Imagen Mol. 2013 Nov-Dec;32(6):406-7. doi: 10.1016/j.remn.2013.05.006. Epub 2013 Jul 12. Rev Esp Med Nucl Imagen Mol. 2013. PMID: 23850374 No abstract available.
Renogram in kidney transplant. Utility of delayed images with SPECT/CT in the diagnosis of urinary leak.
Gómez Hidalgo J, Ruiz Gómez MÁ, Gamazo Laherrán C, Alonso Rodríguez M, Sainz Esteban A, Ruano Pérez R. Gómez Hidalgo J, et al. Among authors: ruiz gomez ma. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2019 Jan-Feb;38(1):46-49. doi: 10.1016/j.remn.2018.07.003. Epub 2018 Aug 14. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2019. PMID: 30120068 English, Spanish.
Confirmation of the pleuroperitoneal leak origin with a SPECT-CT in a patient on peritoneal dialysis.
Álvarez Mena N, Gamazo Laherrán C, Pérez López B, Alonso Rodríguez M, Ruiz Gómez MA, Ruano Pérez R. Álvarez Mena N, et al. Among authors: ruiz gomez ma. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2020 Nov-Dec;39(6):381-382. doi: 10.1016/j.remn.2020.05.003. Epub 2020 Jun 13. Rev Esp Med Nucl Imagen Mol (Engl Ed). 2020. PMID: 32546412 English, Spanish. No abstract available.
14 results