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A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).
Serrano NL, De Diego V, Cuadras D, Martinez Monseny AF, Velázquez-Fragua R, López L, Felipe A, Gutiérrez-Solana LG, Macaya A, Pérez-Dueñas B, Serrano M; CDG Spanish-Consortium. Serrano NL, et al. Among authors: velazquez fragua r. Orphanet J Rare Dis. 2017 Sep 15;12(1):155. doi: 10.1186/s13023-017-0707-0. Orphanet J Rare Dis. 2017. PMID: 28915903 Free PMC article.
From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.
Martinez-Monseny A, Cuadras D, Bolasell M, Muchart J, Arjona C, Borregan M, Algrabli A, Montero R, Artuch R, Velázquez-Fragua R, Macaya A, Pérez-Cerdá C, Pérez-Dueñas B, Pérez B, Serrano M; CDG Spanish Consortium. Martinez-Monseny A, et al. Among authors: velazquez fragua r. J Med Genet. 2019 Apr;56(4):236-245. doi: 10.1136/jmedgenet-2018-105588. Epub 2018 Nov 21. J Med Genet. 2019. PMID: 30464053
Familial spinal neurofibromatosis.
Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Botella P, Viaño J. Pascual-Castroviejo I, et al. Neuropediatrics. 2007 Apr;38(2):105-8. doi: 10.1055/s-2007-985136. Neuropediatrics. 2007. PMID: 17712740
Bilateral spinal neurofibromas in patients with neurofibromatosis 1.
Pascual-Castroviejo I, Pascual-Pascual SI, Viaño J, Velazquez-Fragua R, López-Gutierrez JC. Pascual-Castroviejo I, et al. Brain Dev. 2012 Aug;34(7):563-9. doi: 10.1016/j.braindev.2011.09.011. Epub 2011 Oct 14. Brain Dev. 2012. PMID: 21999966
55 results