Begona Merinero

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 26 publications

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

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

Journal: JIMD reports

Published: April 16, 2020

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Genes and Variants Underlying Human Congenital Lactic Acidosis-From Genetics to Personalized Treatment.

Journal: Journal of clinical medicine

Published: October 08, 2019

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.

Journal: Journal of inherited metabolic disease

Published: February 14, 2019

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

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

Journal: European journal of human genetics : EJHG

Published: June 04, 2018

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type.

Journal: Stem cell research

Published: February 28, 2018

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Journal: Orphanet journal of rare diseases

Published: January 18, 2018

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: August 03, 2017

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.

Journal: JIMD reports

Published: March 13, 2017

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye's syndrome.

Journal: Journal of inherited metabolic disease

Published: January 30, 2017

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment.

Journal: Data in brief

Published: February 08, 2016

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.

Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism.

Journal: Biochimica et biophysica acta

Published: October 02, 2015

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/Serum.

Journal: JIMD reports

Published: September 15, 2015

Showing 1-12 of 26

Last Updated: 09/26/2026