B. Merinero

发表

A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.

C. Pérez-Cerdá, J. Pié, N. Casals, 1998, Archives of biochemistry and biophysics.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

M. Baumgartner, H. Blom, A. Ribes, 2015, Journal of Inherited Metabolic Disease.

Natural History, Outcome, and Treatment Efficacy in Children and Adults with Glutaryl-CoA Dehydrogenase Deficiency

A. Ribes, M. Wajner, B. Merinero, 2006, Pediatric Research.

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

L. Pérez-Jurado, B. Merinero, M. Martínez-Pardo, 2010, Mitochondrion.

Defining the pathogenicity of creatine deficiency syndrome

E. Richard, A. Ribes, B. Merinero, 2011, Human mutation.

A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

B. Merinero, M. Ugarte, P. Rodríguez-Pombo, 2010, Developmental medicine and child neurology.

Creatine transporter deficiency in two adult patients with static encephalopathy

A. Ribes, B. Merinero, R. Artuch, 2009, Journal of Inherited Metabolic Disease.

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

A. Ribes, B. Merinero, R. Artuch, 2010, Journal of Inherited Metabolic Disease.

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

B. Merinero, M. Ugarte, A. Gámez, 2018, Biochimica et biophysica acta. Molecular basis of disease.

Epilepsy spectrum in cerebral creatine transporter deficiency

A. Ribes, B. Merinero, F. Sanmartí, 2009, Epilepsia.

A Novel Regulatory Defect in the Branched‐Chain α‐Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

B. Merinero, M. Martínez-Pardo, M. Ugarte, 2013, Human mutation.

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

E. Richard, C. Pérez-Cerdá, A. Ribes, 2009, Human mutation.

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

D. Turnbull, E. Holme, B. Andresen, 2007, Brain : a journal of neurology.

Late onset type of propionic acidaemia: Case report and biochemical studies

B. Merinero, M. Ugarte, J. Delvalle, 1981, Journal of Inherited Metabolic Disease.

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

P. Lapunzina, C. Pérez-Cerdá, B. Merinero, 2013, Epilepsia.

Segmental uniparental disomy leading to homozygosity for a pathogenic mutation in three recessive metabolic diseases.

P. Lapunzina, J. Nevado, C. Pérez-Cerdá, 2012, Molecular genetics and metabolism.

Molecular Genetics and Metabolism

P. Lapunzina, J. Nevado, C. Pérez-Cerdá, 2012 .

Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group

C. Pérez-Cerdá, B. Merinero, M. Martínez-Pardo, 2008, Journal of Inherited Metabolic Disease.

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

I. T. de Almeida, X. de la Cruz, C. Riera, 2018, Orphanet Journal of Rare Diseases.

Isolated and Combined Remethylation Disorders

E. Richard, C. Pérez-Cerdá, B. Merinero, 2017 .

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

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, European Journal of Human Genetics.

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

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2011, neurogenetics.

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

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, Journal of clinical medicine.

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

A. Drousiotou, A. Ribes, B. Merinero, 2016, JIMD reports.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

E. Richard, C. Pérez-Cerdá, A. Ribes, 2000, European Journal of Human Genetics.

Non‐ketotic hyperglycinaemia: Glycine/serine ratio in amniotic fluid–an unreliable method for prenatal diagnosis

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1989, Prenatal diagnosis.

Dietary treatment and biochemical studies on a neonatal case of propionyl-CoA carboxylase deficiency

B. Merinero, M. Ugarte, J. Quero, 1982, Journal of Inherited Metabolic Disease.

Acute fatty liver of pregnancy and neonatal long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency

B. Merinero, M. Ugarte, Isabel Cuartero, 2008, European Journal of Pediatrics.

Carnitine-acylcarnitine translocase deficiency: experience with four cases in Spain and review of the literature.

B. Merinero, L. Peña-Quintana, J. Dalmau, 2015, JIMD reports.

A new patient with dicarboxylic aciduria suggestive of medium-chain acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome

M. Durán, C. Pérez-Cerdá, S. K. Wadman, 1984, Journal of Inherited Metabolic Disease.

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

A. Ribes, B. Merinero, E. Christensen, 2004, Journal of Inherited Metabolic Disease.

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Anita MacDonald, Flemming Skovby, Brian Fowler, 2014, Orphanet Journal of Rare Diseases.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

Joaquín Dopazo, Rosa Navarrete, Anna López-Sala, 2014, Human mutation.

Two novel mutations in the BCKDK gene ( branched-chain keto-acid dehydrogenase kinase ) are responsible of a neurobehavioral deficit in two pediatric unrelated patients

Joaquín Dopazo, Joana, Rafael Artuch, 2014 .

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

B. Merinero, M. Ugarte, V. Kožich, 2015, Clinica chimica acta; international journal of clinical chemistry.

Results of neonatal and selective screening for biotinidase deficiency

C. Pérez-Cerdá, B. Merinero, M. Martínez-Pardo, 1987, Journal of Inherited Metabolic Disease.

Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Investigation of enzyme defects in children with lactic acidosis

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1992, Journal of Inherited Metabolic Disease.

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

Marta A. Uzarska, J. A. Arranz, F. Tort, 2011, American journal of human genetics.

Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.

B. Merinero, J. Arenas, Miguel Ángel Martín, 2010, Biochimica et biophysica acta.

Mutational spectrum of maple syrup urine disease in Spain

P. Gómez-Puertas, B. Merinero, M. Ugarte, 2006, Human mutation.

Separation and identification of plasma short-chain acylcarnitine isomers by HPLC/MS/MS for the differential diagnosis of fatty acid oxidation defects and organic acidemias.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2007, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

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

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2018, JIMD reports.

Glutaryl-CoA Dehydrogenase Deficiency in Spain: Evidence of Two Groups of Patients, Genetically, and Biochemically Distinct

M. Orozco, J. Gelpí, A. Ribes, 2000, Pediatric Research.

Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)

E. Richard, B. Merinero, M. Ugarte, 2009, Human mutation.

A new case of succinyl-CoA: Acetoacetate transferase deficiency

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1992, Journal of Inherited Metabolic Disease.

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

W. Yue, S. Banka, G. Zampino, 2019, Journal of inherited metabolic disease.

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2006, Human mutation.

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America

C. Pérez-Cerdá, M. Wajner, B. Merinero, 2010, Journal of Inherited Metabolic Disease.

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants.

B. Merinero, M. Ugarte, B. Pérez, 2005, Molecular genetics and metabolism.

Liver transplantation in nine Spanish patients with tyrosinaemia type I

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1995, Journal of Inherited Metabolic Disease.

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2016, Genetics in Medicine.

Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis

A. Ribes, B. Merinero, M. Ugarte, 2000, Prenatal Diagnosis.

Variable clinical and biochemical presentation of seven Spanish cases with glutaryl-CoA-dehydrogenase deficiency.

C. Pérez-Cerdá, B. Merinero, A. Martínez-Bermejo, 1995, Neuropediatrics.

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

B. Merinero, M. Ugarte, R. Artuch, 2016, Biochimica et biophysica acta.

Thirteen Years Experience with Selective Screening for Disorders in Purine and Pyrimidine Metabolism

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2014, Nucleosides, nucleotides & nucleic acids.

Isolated and Combined Remethylation Disorders: Biochemical and Genetic Diagnosis and Pathophysiology

E. Richard, C. Pérez-Cerdá, B. Merinero, 2017 .

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, European Journal of Pediatrics.

Novel features in the evolution of adenylosuccinate lyase deficiency.

B. Merinero, R. Artuch, B. Pérez-Dueñas, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2002, Neuropediatrics.

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies

R. Banerjee, E. Richard, B. Merinero, 2015, Clinical genetics.

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Ronald J A Wanders, Antonia Ribes, Magdalena Ugarte, 2005, Pediatric Research.

Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2006, Journal of Inherited Metabolic Disease.

Dataset reporting BCKDK interference in a BCAA-catabolism restricted environment

B. Merinero, M. Ugarte, R. Artuch, 2016, Data in brief.

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

R. Banerjee, Aurora Martínez, B. Merinero, 2013, Human molecular genetics.

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

R. Banerjee, E. Richard, B. Merinero, 2010, Human mutation.

Successful First Trimester Diagnosis in a Pregnancy at Risk for Propionic Acidaemia

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1989, Journal of Inherited Metabolic Disease.

Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect.

B. Merinero, M. Ugarte, D. Codazzi, 2013, JIMD reports.

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency

B. Andresen, C. Pérez-Cerdá, B. Merinero, 1999, Journal of Inherited Metabolic Disease.

Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

M. Durán, C. Pérez-Cerdá, B. Merinero, 1996, Journal of Inherited Metabolic Disease.

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

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2019, European Journal of Human Genetics.

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease

P. Bross, B. Merinero, M. Ugarte, 2014, Molecular genetics & genomic medicine.

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

B. Merinero, A. Hernández-Laín, E. Martín‐Hernández, 2017, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of propionic acidemia

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 2004, Prenatal diagnosis.

Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria

C. Pérez-Cerdá, B. Merinero, M. Ugarte, 1998, Prenatal diagnosis.

First report of prenatal diagnosis of long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency in a pregnancy at risk

R. Wanders, C. Pérez-Cerdá, B. Merinero, 1993, Prenatal diagnosis.

Two Novel Mutations in the BCKDK (Branched‐Chain Keto‐Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

J. Dopazo, B. Merinero, M. Ugarte, 2014, Human mutation.