C. Pérez-Cerdá

发表

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency.

B. Puisac, M. Teresa-Rodrigo, M. Arnedo, 2013, Molecular genetics and metabolism.

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.

Ten novel HMGCL mutations in 24 patients of different origin with 3‐hydroxy‐3‐methyl‐glutaric aciduria

B. Puisac, M. Arnedo, C. Pérez-Cerdá, 2009, Human mutation.

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

C. Pérez-Cerdá, M. Ugarte, R. Artuch, 2011, Journal of Inherited Metabolic Disease.

Towards a model to explain the intragenic complementation in the heteromultimeric protein propionyl-CoA carboxylase.

L. Sánchez-Pulido, C. Pérez-Cerdá, M. Ugarte, 2005, Biochimica et biophysica acta.

Propionic acidemia: unusual course with late onset and fatal outcome.

M. Baumgartner, C. Pérez-Cerdá, M. Ugarte, 2004, Metabolism: clinical and experimental.

Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides.

C. Pérez-Cerdá, E. Martín‐Hernández, V. Pérez-Alonso, 2012, JIMD reports.

Urine oligosaccharide tests for the diagnosis of oligosaccharidoses

C. Pérez-Cerdá, R. Artuch, P. Ruiz-Sala, 2017 .

Proteostasis regulators as potential rescuers of PMM2 activity.

C. Pérez-Cerdá, M. Ugarte, A. Gámez, 2020, Biochimica et biophysica acta. Molecular basis of disease.

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.

New frequent mutation in the PCCB gene in Spanish propionic acidemia patients

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, Human mutation.

Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

C. Pérez-Cerdá, M. Couce, A. Fernández-Marmiesse, 2016, Journal of Human Genetics.

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation

Ellard, M. Weedon, N. Sebire, 2017 .

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 .

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

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.

Propionic acidemia: mutation update and functional and structural effects of the variant alleles.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2004, Molecular genetics and metabolism.

Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2019, Clinical genetics.

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

S. Cederbaum, Christina Lam, C. Pérez-Cerdá, 2011, Molecular genetics and metabolism.

A novel single-base substitution (380C>T) that activates a 5-base downstream cryptic splice-acceptor site within exon 5 in almost all transcripts in the human mitochondrial acetoacetyl-CoA thiolase gene.

C. Pérez-Cerdá, M. Ugarte, T. Fukao, 2001, Molecular genetics and metabolism.

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.

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

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2011, Molecular genetics and metabolism.

Functional analysis of PCCB mutations causing propionic acidemia based on expression studies in deficient human skin fibroblasts.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2003, Biochimica et biophysica acta.

Functional characterization of PCCA mutations causing propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2002, Biochimica et biophysica acta.

Pathogenic implications of dysregulated miRNAs in propionic acidemia related cardiomyopathy.

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2019, Translational research : the journal of laboratory and clinical medicine.

Succinyl CoA: 3-oxoacid CoA transferase (SCOT): human cDNA cloning, human chromosomal mapping to 5p13, and mutation detection in a SCOT-deficient patient.

C. Pérez-Cerdá, M. Ugarte, A. Duncan, 1996, American journal of human genetics.

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.

Antisense‐mediated therapeutic pseudoexon skipping in TMEM165‐CDG

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2015, Clinical genetics.

High frequency of large genomic deletions in the PCCA gene causing propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2009, Molecular genetics and metabolism.

Seventeen novel mutations that cause profound biotinidase deficiency.

T. Suormala, E. R. Baumgartner, C. Pérez-Cerdá, 2002, Molecular genetics and metabolism.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Haruki Nakamura, C. Pérez-Cerdá, M. Ugarte, 2002, Molecular genetics and metabolism.

Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases

C. Pérez-Cerdá, M. Martínez-Pardo, M. Couce, 2014, Orphanet Journal of Rare Diseases.

Pharmacological Chaperoning: A Potential Treatment for PMM2‐CDG

Aurora Martínez, C. Pérez-Cerdá, M. Ugarte, 2017, Human mutation.

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2019, Stem cell research.

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2019, Stem cell research.

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.

Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.

S. Rodríguez de Córdoba, J. Esparza-Gordillo, C. Pérez-Cerdá, 2003, Molecular genetics and metabolism.

Cost-Effectiveness Analysis of a National Newborn Screening Program for Biotinidase Deficiency

Arantzazu Arrospide, Pedro Serrano-Aguilar, Stephen Morris, 2015, Pediatrics.

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.

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

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

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.

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2003, Molecular genetics and metabolism.

Investigation of enzyme defects in children with lactic acidosis

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

[Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity].

C. Pérez-Cerdá, J. Dalmau, I. Vitoria, 2014, Anales de pediatria.

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

J. Hoenicka, E. Richard, C. Pérez-Cerdá, 1998, American journal of human genetics.

Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation

B. Hartmann, P. Huppke, C. Pérez-Cerdá, 2017, Clinical genetics.

Protein misfolding diseases: Prospects of pharmacological treatment

C. Pérez-Cerdá, M. Ugarte, A. Gámez, 2018, Clinical genetics.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

C. Pérez-Cerdá, M. Ugarte, M. Palacín, 2013, Molecular genetics and metabolism.

Understanding molecular mechanisms in propionic acidemia and investigated therapeutic strategies

E. Richard, C. Pérez-Cerdá, B. Pérez, 2015 .

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.

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2018, Molecular genetics and metabolism.

Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

C. Pérez-Cerdá, M. Ugarte, M. Couce, 2017, Human mutation.

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2018, International journal of molecular sciences.

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2009, Human mutation.

The enigmatic role of tafazzin in cardiolipin metabolism.

R. Wanders, R. Houtkooper, C. Pérez-Cerdá, 2009, Biochimica et biophysica acta.

Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: difficulties in the diagnosis.

C. Pérez-Cerdá, A. Ribes, A. Messeguer, 2009, Clinical biochemistry.

A new case of succinyl-CoA: Acetoacetate transferase deficiency

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

Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III

E. Holme, C. Pérez-Cerdá, M. Ugarte, 2000, Human Genetics.

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2016, Genetics in Medicine.

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

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

Polycystic kidney disease with hyperinsulinemic hypoglycemia caused by a promoter mutation in PMM2

M. Weedon, S. Ellard, N. Sebire, 2017 .

Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.

M. Weedon, S. Ellard, N. Sebire, 2017, Journal of the American Society of Nephrology : JASN.

The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.

G. Matthijs, C. Pérez-Cerdá, M. Ugarte, 2011, JIMD reports.

Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations.

G. Matthijs, C. Pérez-Cerdá, R. Artuch, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

C. Pérez-Cerdá, L. López Marín, L. González Gutiérrez-Solana, 2021, Neurologia.

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.

Liver transplantation in nine Spanish patients with tyrosinaemia type I

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

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

C. Pérez-Cerdá, M. García-Martín, Enrique Rodríguez-García, 2019, Journal of inherited metabolic disease.

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2019, Annals of neurology.

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.

Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase.

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2001, Molecular genetics and metabolism.

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

E. Richard, C. Pérez-Cerdá, M. Ugarte, 1999, Human mutation.

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

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

A Population‐Based Study on Congenital Disorders of Protein N‐ and Combined with O‐Glycosylation Experience in Clinical and Genetic Diagnosis

C. Pérez-Cerdá, R. Artuch, P. Briones, 2017, The Journal of pediatrics.

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

Belén Pérez, Rafael Artuch, Alfons Macaya, 2018, Journal of Medical Genetics.

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

D. Cuadras, C. Pérez-Cerdá, R. Artuch, 2015, Orphanet Journal of Rare Diseases.

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 .

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 1997, Human Genetics.

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

C. Pérez-Cerdá, R. Artuch, M. Pineda, 2012, The Cerebellum.

Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.

Laura Vilarinho, Magdalena Ugarte, C. Pérez-Cerdá, 2008, Clinical chemistry.

Neuroimage findings in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency.

C. Pérez-Cerdá, A. Ribes, A. Verdú, 2007, Pediatric neurology.

Differential HMG-CoA lyase expression in human tissues provides clues about 3-hydroxy-3-methylglutaric aciduria

Fausto G. Hegardt, Antonia Ribes, B. Puisac, 2010, Journal of Inherited Metabolic Disease.

Skipping of exon 2 and exons 2 plus 3 of HMG-CoA lyase (HL) gene produces the loss of beta sheets 1 and 2 in the recently proposed (beta-alpha)8 TIM barrel model of HL.

B. Puisac, C. Pérez-Cerdá, Á. Pié, 2005, Biophysical chemistry.

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.

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

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

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2013, Journal of Inherited Metabolic Disease.

Identification of novel mutations in the PCCB gene in European propionic acidemia patients

C. Pérez-Cerdá, J. Sass, M. Ugarte, 1999, Human mutation.

Congenital disorder of glycosylation Ia: new differentially expressed proteins identified by 2-DE.

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2009, Biochemical and biophysical research communications.

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2017, Scientific Reports.

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.

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

C. Pérez-Cerdá, M. Ugarte, C. Ramos, 2008, Molecular genetics and metabolism.

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.

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

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2017, PloS one.

Infantile parkinsonism and GABAergic hypotransmission in a patient with pyruvate carboxylase deficiency.

C. Pérez-Cerdá, C. Ortez, A. Ormazabal, 2013, Gene.

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

D. Cuadras, A. Poretti, C. Pérez-Cerdá, 2017, Journal of Inherited Metabolic Disease.

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

E. Richard, C. Pérez-Cerdá, M. Ugarte, 2017, Stem cell research.

Splicing mutations, mainly IVS6‐1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients

J. A. Arranz, B. Cormand, C. Pérez-Cerdá, 2002, Human mutation.

Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2014, Clinical genetics.

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.

Genetic heterogeneity in propionic acidemia patients with alpha-subunit defects. Identification of five novel mutations, one of them causing instability of the protein.

E. Richard, C. Pérez-Cerdá, M. Ugarte, 1999, Biochimica et biophysica acta.

New splicing mutations in propionic acidemia

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2006, Journal of Human Genetics.

Identification of the insertion/deletion mutation in Spanish β-propionyl-CoA carboxylase-deficient patients

C. Pérez-Cerdá, M. Ugarte, P. Rodríguez-Pombo, 1994, Journal of Inherited Metabolic Disease.

The Effects of PMM2‐CDG‐Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2015, Human mutation.

The Effects of PMM 2-CDG-Causing Mutations on the Folding , Activity , and Stability of the PMM 2 Protein

C. Pérez-Cerdá, M. Ugarte, B. Pérez, 2015 .

[Succinic semialdehyde dehydrogenase deficiency: decrease in 4-OH-butyric acid levels with low doses of vigabatrin].

C. Pérez-Cerdá, C. Jakobs, G. Salomons, 2010, Anales de pediatria.

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.

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

D. Morton, J. Esparza-Gordillo, C. Pérez-Cerdá, 2001, American journal of human genetics.

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.

A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene

C. Pérez-Cerdá, M. Martínez-Pardo, M. Ugarte, 2013, Journal of Inherited Metabolic Disease.

Prenatal diagnosis of propionic acidemia

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

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism

S. D. Jong, C. Pérez-Cerdá, M. Ugarte, 2010, Journal of Inherited Metabolic Disease.

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.