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Page 1
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
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.
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.
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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
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New Insights on the Genetic Basis Underlying SHILCA Syndrome: Characterization of the NMNAT1 Pathological Alterations Due to Compound Heterozygous Mutations and Identification of a Novel Alternative Isoform.
Abad-Morales V, Wert A, Ruiz Gómez MÁ, Navarro R, Pomares E.
Abad-Morales V, et al. Among authors: ruiz gomez ma.
Int J Mol Sci. 2021 Feb 24;22(5):2262. doi: 10.3390/ijms22052262.
Int J Mol Sci. 2021.
PMID: 33668384
Free PMC article.
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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.
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