B Perez


Country: Spain


  1. Navarrete R, Leal F, Vega A, Moráis López A, Garcia Silva M, Martin Hernandez E, et al. Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. Eur J Hum Genet. 2019;: pubmed publisher
    ..In summary, simultaneous genomic and metabolomic analyses can increase the number of inborn errors of metabolism that can be confirmed following suggestive newborn screening results. ..
  2. Matos L, Gonçalves V, Pinto E, Laranjeira F, Prata M, Jordan P, et al. Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II. Biochim Biophys Acta. 2015;1852:2712-21 pubmed publisher
  3. Brasil S, Briso Montiano Á, Gamez A, Underhaug J, Flydal M, Desviat L, et al. New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. Biochim Biophys Acta. 2018;1864:640-648 pubmed publisher
  4. Izquierdo Serra M, Martinez Monseny A, Lopez L, Carrillo Garcia J, Edo A, Ortigoza Escobar J, et al. Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy. Int J Mol Sci. 2018;19: pubmed publisher
    ..1 channel. CaV2.1 hypoglycosylation may cause ataxia and SLEs in PMM2-CDG patients. Aberrant CaV2.1 N-glycosylation as a novel pathomechanism in PMM2-CDG opens new therapeutic possibilities. ..
  5. Richard E, Brasil S, Briso Montiano Á, Alonso Barroso E, Gallardo M, Merinero B, et al. Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. Stem Cell Res. 2018;29:143-147 pubmed publisher
    ..Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. ..
  6. Brasil S, Leal F, Vega A, Navarrete R, Ecay M, Desviat L, et al. Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants. Orphanet J Rare Dis. 2018;13:125 pubmed publisher
    ..However, for accurate diagnoses to be made, biochemical and functional tests that allow comprehensive clinical phenotyping are also needed. ..