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Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Orphanet J Rare Dis. 2018 Jul 24;13(1):125. doi: 10.1186/s13023-018-0862-y.
Orphanet J Rare Dis. 2018.
PMID: 30041674
Free PMC article.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Medrano C, Vega A, Navarrete R, Ecay MJ, Calvo R, Pascual SI, Ruiz-Pons M, Toledo L, García-Jiménez I, Arroyo I, Campo A, Couce ML, Domingo-Jiménez MR, García-Silva MT, González-Gutiérrez-Solana L, Hierro L, Martín-Hernández E, Martínez-Pardo M, Roldán S, Tomás M, Cabrera JC, Mártinez-Bugallo F, Martín-Viota L, Vitoria-Miñana I, Lefeber DJ, Girós ML, Serrano Gimare M, Ugarte M, Pérez B, Pérez-Cerdá C.
Medrano C, et al. Among authors: ecay mj.
Clin Genet. 2019 May;95(5):615-626. doi: 10.1111/cge.13508. Epub 2019 Apr 3.
Clin Genet. 2019.
PMID: 30653653
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A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene.
Pérez B, Medrano C, Ecay MJ, Ruiz-Sala P, Martínez-Pardo M, Ugarte M, Pérez-Cerdá C.
Pérez B, et al. Among authors: ecay mj.
J Inherit Metab Dis. 2013 May;36(3):535-42. doi: 10.1007/s10545-012-9525-7. Epub 2012 Sep 14.
J Inherit Metab Dis. 2013.
PMID: 22976764
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The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
Pérez B, Briones P, Quelhas D, Artuch R, Vega AI, Quintana E, Gort L, Ecay MJ, Matthijs G, Ugarte M, Pérez-Cerdá C.
Pérez B, et al. Among authors: ecay mj.
JIMD Rep. 2011;1:117-23. doi: 10.1007/8904_2011_26. Epub 2011 Jun 22.
JIMD Rep. 2011.
PMID: 23430838
Free PMC article.
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A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
Pérez-Cerdá C, Girós ML, Serrano M, Ecay MJ, Gort L, Pérez Dueñas B, Medrano C, García-Alix A, Artuch R, Briones P, Pérez B.
Pérez-Cerdá C, et al. Among authors: ecay mj.
J Pediatr. 2017 Apr;183:170-177.e1. doi: 10.1016/j.jpeds.2016.12.060. Epub 2017 Jan 27.
J Pediatr. 2017.
PMID: 28139241
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