Publications by authors named "Celia Pérez-Cerdá"

68Publications

Long-term follow-up with filter paper samples in patients with propionic acidemia.

JIMD Rep 2021 Jan 27;57(1):44-51. Epub 2020 Sep 27.

Unidad de Enfermedades Metabólicas Hospital Universitario Ramón y Cajal, IRYCIS, CIBER-OBN Madrid Spain.

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January 2021

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

Transl Res 2020 04 27;218:43-56. Epub 2019 Dec 27.

Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa CSIC-UAM, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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April 2020

Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].

Stem Cell Res 2019 Aug 28;39:101513. Epub 2019 Jul 28.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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August 2019

Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.

Stem Cell Res 2019 08 16;39:101503. Epub 2019 Jul 16.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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August 2019

Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.

Stem Cell Res 2019 07 22;38:101469. Epub 2019 May 22.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma de Madrid, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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July 2019

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening.

J Inherit Metab Dis 2019 05 21;42(3):407-413. Epub 2019 Feb 21.

Centro Diagnóstico de Enfermedades Moleculares (CEDEM), Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, idiPAZ, Madrid, Spain.

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May 2019

From gestalt to gene: early predictive dysmorphic features of PMM2-CDG.

J Med Genet 2019 04 21;56(4):236-245. Epub 2018 Nov 21.

Genetics and Molecular Medicine Department and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.

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April 2019

Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations.

Mol Genet Metab 2018 11 26;125(3):266-275. Epub 2018 Sep 26.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Spain. Electronic address:

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November 2018

Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.

Stem Cell Res 2017 08 22;23:173-177. Epub 2017 Jul 22.

Centro de Biología Molecular Severo Ochoa UAM-CSIC, Universidad Autónoma, Madrid, Spain; Centro de Diagnóstico de Enfermedades Moleculares (CEDEM), Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain; Instituto de Investigación Sanitaria Hospital La Paz (IdiPaz), ISCIII, Madrid, Spain. Electronic address:

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August 2017

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress.

PLoS One 2017 29;12(6):e0179456. Epub 2017 Jun 29.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.

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September 2017