List of works - Lourdes R Desviat

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? ⬇️

scientific article published on April 22, 2011

A new PKU mutation associated with haplotype 12

scientific article published on 01 December 1992

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

scientific article

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option ⬇️

scientific article published on January 25, 2013

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

scientific article

Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase ⬇️

scientific article published on 01 December 2001

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia ⬇️

scientific article published on April 16, 2012

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant ⬇️

scientific article published on March 24, 2011

Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients ⬇️

scientific article published on August 1, 1998

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

scientific article

Minigenes to Confirm Exon Skipping Mutations ⬇️

scientific article published on January 1, 2012

Novel features in the evolution of adenylosuccinate lyase deficiency ⬇️

scientific article published on September 7, 2011

Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia ⬇️

scientific article published on November 5, 2010

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects ⬇️

scientific article published on January 1, 2013

PAH deficient pathology in humanized c.1066-11G&gt;A phenylketonuria mice

scientific article published in 2024

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type ⬇️

scientific article published on May 13, 2013

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease ⬇️

scientific article published on 02 October 2012

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

scientific article published on 01 July 1997

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients ⬇️

scientific article published on November 1, 1997

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

scientific article published on 09 January 2019

List of works by Lourdes R Desviat

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? ⬇️

A new PKU mutation associated with haplotype 12

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.

Clinical, biochemical, and molecular studies in pyridoxine‐dependent epilepsy. Antisense therapy as possible new therapeutic option ⬇️

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

Effect of PCCB Gene Mutations on the Heteromeric and Homomeric Assembly of Propionyl-CoA Carboxylase ⬇️

Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemia ⬇️

Genotype–phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant ⬇️

Human Propionyl-CoA Carboxylase β Subunit Gene: Exon-Intron Definition and Mutation Spectrum in Spanish and Latin American Propionic Acidemia Patients ⬇️

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5' splice site.

Minigenes to Confirm Exon Skipping Mutations ⬇️

Novel features in the evolution of adenylosuccinate lyase deficiency ⬇️

Overexpression of adapted U1snRNA in patients' cells to correct a 5′ splice site mutation in propionic acidemia ⬇️

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects ⬇️

PAH deficient pathology in humanized c.1066-11G&amp;gt;A phenylketonuria mice

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type ⬇️

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease ⬇️

Relationship between mutation genotype and biochemical phenotype in a heterogeneous Spanish phenylketonuria population

Three novel splice mutations in the PCCA gene causing identical exon skipping in propionic acidemia patients ⬇️

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice