M. Vilaseca

R. Artuch, M. Vilaseca, C. Farré, 1995, European journal of clinical chemistry and clinical biochemistry : journal of the Forum of European Clinical Chemistry Societies.

3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

E. Schaftingen, R. Artuch, M. Pineda, 2000, Developmental medicine and child neurology.

Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?

R. Artuch, M. Vilaseca, J. Campistol, 2001, Clinical biochemistry.

A CBS haplotype and a polymorphism at the MSR gene are associated with cardiovascular disease in a Spanish case-control study.

D. Grinberg, S. Balcells, M. Vilaseca, 2007, Clinical biochemistry.

Neurocognitive function in mild hyperphenylalaninemia

R. Artuch, M. Vilaseca, J. Campistol, 2011, Developmental Medicine & Child Neurology.

Ubiquinone-10 content in lymphocytes of phenylketonuric patients.

R. Artuch, M. Vilaseca, J. Campistol, 2002, Clinical biochemistry.

Fatal haemorrhagic infarct in an infant with homocystinuria

F. Kirkham, H. Blom, M. Vilaseca, 1999, Developmental medicine and child neurology.

Plasma thiols and their determinants in phenylketonuria

R. Artuch, M. Vilaseca, J. Campistol, 2003, European Journal of Clinical Nutrition.

ORIGINAL COMMUNICATION Plasma thiols and their determinants in phenylketonuria

R. Artuch, M. Vilaseca, J. Campistol, 2003 .

Homocisteína y gestación

M. Vilaseca, Eva-Llúcia López-Quesada, S. González, 2000 .

Fatal haemorrhagic infarct in an infant with homocystinuria.

F. Kirkham, H. Blom, M. Vilaseca, 1999 .

Quality of dietary control in phenylketonuric patients and its relationship with general intelligence.

R. Artuch, M. Vilaseca, J. Campistol, 2010, Nutricion hospitalaria.

Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin.

R. Artuch, M. Vilaseca, J. Campistol, 2010, Clinical Biochemistry.

Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2005, Journal of Inherited Metabolic Disease.

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion

A. Ormazabal, R. Artuch, M. Pineda, 2006, Annals of neurology.

Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

P. Navas, R. Artuch, M. Pineda, 2005, BioFactors.

Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.

R. Artuch, M. Pineda, J. Montoya, 2000, Clinical biochemistry.

Multiple Endocrine Involvement in Two Pediatric Patients with Kearns-Sayre Syndrome

R. Artuch, M. Pineda, J. Montoya, 1998, Hormone Research in Paediatrics.

[Ubiquinone: metabolism and functions. Ubiquinone deficiency and its implication in mitochondrial encephalopathies. Treatment with ubiquinone].

R. Artuch, M. Pineda, M. Vilaseca, 1999, Revista de neurologia.

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein: A hypothesis on the molecular mechanism of the OTC deficiency

M. García-Pérez, P. Briones, M. Vilaseca, 1997, Journal of Inherited Metabolic Disease.

Personal Experience with the Application of Carbohydrate-Deficient Transferrin (CDT) Assays to the Detection of Congenital Disorders of Glycosylation

R. Artuch, M. Pineda, P. Briones, 2000, Clinical chemistry and laboratory medicine.

Antioxidant status in hyperphenylalaninemia.

R. Deulofeu, M. Vilaseca, J. Campistol, 1998, Clinica chimica acta; international journal of clinical chemistry.

Low serum carnitine in HIV-infected children on antiretroviral treatment

R. Artuch, C. Muñoz-Almagro, M. Vilaseca, 2003, European Journal of Clinical Nutrition.

Neurological complications and behavioral problems in patients with phenylketonuria in a follow-up unit.

M. Vilaseca, J. Campistol, R. Gassió, 2011, Molecular genetics and metabolism.

Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.

A. Ormazabal, R. Artuch, M. Pineda, 2011, Clinical biochemistry.

Phenylalanine determined in plasma with use of phenylalanine dehydrogenase and a centrifugal analyzer.

M. Vilaseca, C. Farré, F. Ramon, 1993, Clinical chemistry.

Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.

J. Mallolas, M. Milá, M. Vilaseca, 1999, Molecular genetics and metabolism.

Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation

R. Artuch, P. Briones, M. Vilaseca, 2003, Journal of Neuroscience Methods.

Hyperlactatemia in human immunodeficiency virus-infected children receiving antiretroviral treatment

R. Artuch, C. Muñoz-Almagro, J. Pou, 2003, The Pediatric infectious disease journal.

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

J. Reiss, R. Artuch, B. Pérez-Dueñas, 2007, Pediatric Radiology.

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

P. Lapunzina, J. Nevado, J. Armstrong, 2013, Scientific Reports.

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

M. Pineda, F. Iqbal, M. Couce, 2010, Molecular genetics and metabolism.

Requirement of high biotin doses in a case of biotinidase deficiency

J. Suñé, A. Ribes, P. Briones, 1989, Journal of Inherited Metabolic Disease.

Late-onset form of β-electron transfer flavoprotein deficiency

B. Andresen, A. Ribes, N. Gregersen, 2003 .

Late-onset form of beta-electron transfer flavoprotein deficiency.

B. Andresen, A. Ribes, N. Gregersen, 2003, Molecular genetics and metabolism.

Increased urine methylmalonic acid excretion in infants with apnoeas

A. Ribes, R. Artuch, M. Vilaseca, 1998, Journal of Inherited Metabolic Disease.

Diagnostic approach to inborn errors of metabolism in an emergency unit

R. Artuch, M. Pineda, J. Pou, 2000, Pediatric emergency care.

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.

Cerebrospinal Fluid Concentrations of Folate, Biogenic Amines and Pterins in Rett Syndrome: Treatment with Folinic Acid

A. Ormazabal, R. Artuch, M. Pineda, 2005, Neuropediatrics.

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

A. Ribes, F. Sanmartí, M. Pineda, 2009, Pediatric neurology.

A new case of holocarboxylase synthetase deficiency

A. Ribes, P. Briones, M. Vilaseca, 1989, Journal of Inherited Metabolic Disease.

Hurler's Syndrome, West's Syndrome, and Vitamin D-Dependent Rickets

J. Conill, M. Vilaseca, J. Campistol, 2002, Journal of child neurology.

Hyperlactatemia in Human Immunodeficiency Virus–Uninfected Infants Who Are Exposed to Antiretrovirals

R. Artuch, C. Muñoz-Almagro, J. Pou, 2004, Pediatrics.

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

M. Baumgartner, T. Suormala, P. Chinnery, 2016, Journal of Inherited Metabolic Disease.

Cerebellar Hemorrhage in a Patient with Propionic Acidemia

M. Vilaseca, J. Campistol, M. Serrano, 2009, The Cerebellum.

Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

J. A. Arranz, R. Artuch, P. Briones, 2010, Journal of child neurology.

Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism.

R. Artuch, I. Marín-Valencia, M. Vilaseca, 2010, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister‐Killian syndrome)

M. Tejada, P. Briones, M. Vilaseca, 1992, Prenatal diagnosis.

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency

F. Sánchez-Jiménez, A. Ribes, L. Vilarinho, 2010, Clinical genetics.

[Homocysteine and pregnancy].

M. Vilaseca, E. Lopez-Quesada, S. González, 2000, Medicina clinica.

Cognitive functions and the antioxidant system in phenylketonuric patients.

R. Artuch, M. Vilaseca, J. Campistol, 2008, Neuropsychology.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2006, Journal of Human Genetics.

Isotretinoin, Trimethylaminuria and theInternet

M. Vilaseca, M. Serrano, Jaume Pérez-Payarols, 2016 .

Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene

B. Burwinkel, R. Sokol, K. Narisawa, 1998, Human Genetics.

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain

F. Tort, A. Ribes, M. Pineda, 2010, Journal of Inherited Metabolic Disease.

International Society for Pediatric and Adolescent Diabetes

V. Tillmann, D. Jacqmin, S. Bernasconi, 1998, Hormone Research in Paediatrics.

Characterization of seven novel mutations in seven patients with GAMT deficiency

R. Battini, O. Bodamer, S. Stockler-Ipsiroglu, 2004, Human mutation.

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

Rafael Artuch, Jaume Campistol, R. Artuch, 2004, Clinical biochemistry.

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

E. Schaftingen, R. Wevers, B. Poll-The, 1997, Journal of Inherited Metabolic Disease.

Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients

L. Vilarinho, D. Grinberg, S. Balcells, 2011, Human mutation.

The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America

M. Martínez-Pardo, L. Vilarinho, M. Couce, 2007, Journal of Human Genetics.

Functional assays testing pathogenicity of 14 cystathionine‐beta synthase mutations

D. Grinberg, S. Balcells, M. Vilaseca, 2006, Human mutation.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

M. Pineda, J. Jaeken, P. Briones, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome.

M. Pineda, J. Jaeken, M. Vilaseca, 1996, Archives of disease in childhood.

Anti-epileptic drug treatment in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T mutation of the methylenetetrahydrofolate reductase gene.

E. Monrós, R. Artuch, M. Pineda, 2000, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Lipophilic antioxidants in patients with phenylketonuria.

R. Artuch, M. Vilaseca, J. Campistol, 2003, The American journal of clinical nutrition.

Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity

A. Ribes, M. Pineda, E. Christensen, 1998, Developmental medicine and child neurology.

The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

R. Artuch, M. Pineda, B. Pérez-Dueñas, 2010, Journal of Inherited Metabolic Disease.

Plasma total homocysteine in uncomplicated pregnancy and in preeclampsia.

M. Vilaseca, J. Lailla, E. Lopez-Quesada, 2003, European journal of obstetrics, gynecology, and reproductive biology.

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

T. Suormala, L. Vilarinho, M. Pineda, 2003, Journal of Inherited Metabolic Disease.

Hand tremor and orofacial dyskinesia: Clinical manifestations of glutaric aciduria type I in a young girl

A. Ribes, Á. García-Cazorla, E. Fernández-Álvarez, 2003 .

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi

A. Ribes, E. Christensen, M. Vilaseca, 1998, Journal of Inherited Metabolic Disease.

School performance in early and continuously treated phenylketonuria.

R. Artuch, A. López-Sala, M. Vilaseca, 2005, Pediatric neurology.

First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period.

J. Häberle, M. Vilaseca, R. Parini, 2010, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

A. Ormazabal, R. Artuch, M. Pineda, 2009, Journal of Medical Genetics.

Homocysteine and the MTHFR 677C→T allele in premature coronary artery disease. Case control and family studies

J. Ordovás, D. Grinberg, S. Balcells, 2001, European journal of clinical investigation.

Children With Stroke: Polymorphism of the MTHFR Gene, Mild Hyperhomocysteinemia, and Vitamin Status

E. Monrós, R. Artuch, M. Pineda, 2000, Journal of child neurology.

Total homocysteine in pediatric patients.

R. Artuch, M. Vilaseca, I. Ferrer, 1997, Clinical chemistry.

A folate-rich diet is as effective as folic acid from supplements in decreasing plasma homocysteine concentrations

R. Artuch, D. Grinberg, S. Balcells, 2005, International journal of medical sciences.

Oxidative stress in Rett syndrome

R. Artuch, M. Pineda, M. Vilaseca, 2001, Brain and Development.

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria

D. Grinberg, S. Balcells, M. Vilaseca, 2004, Journal of Inherited Metabolic Disease.

Homocysteine and other plasma amino acids in preeclampsia and in pregnancies without complications.

R. Artuch, M. Vilaseca, J. Lailla, 2003, Clinical biochemistry.

Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus‐infected children

R. Artuch, C. Muñoz-Almagro, M. Vilaseca, 2001, European journal of clinical investigation.

Total homocysteine in patients with type 1 diabetes.

R. Artuch, M. Vilaseca, C. Valls, 2000, Diabetes care.

Evaluation of hyperhomocysteinaemia in children with stroke.

R. Artuch, M. Pineda, M. Vilaseca, 1999, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Selective screening for hyperhomocysteinemia in pediatric patients.

R. Artuch, M. Pineda, M. Vilaseca, 1998, Clinical chemistry.

Plasma total-homocysteine in anorexia nervosa

R. Artuch, M. Vilaseca, C. Valls, 1998, European Journal of Clinical Nutrition.

Polymorphisms of genes involved in homocysteine metabolism in preeclampsia and in uncomplicated pregnancies.

D. Grinberg, S. Balcells, M. Vilaseca, 2005, European Journal of Obstetrics, Gynecology, and Reproductive Biology.

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

R. Artuch, P. Briones, M. Vilaseca, 2005, Journal of pediatric gastroenterology and nutrition.

Phenotype and genotype heterogeneity in Mediterranean citrullinemia.

T. Saheki, P. Briones, M. Vilaseca, 2001, Molecular genetics and metabolism.

Monitoring of idebenone treatment in patients with Friedreich's ataxia by high-pressure liquid chromatography with electrochemical detection

R. Artuch, M. Pineda, M. Vilaseca, 2002, Journal of Neuroscience Methods.

[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].

A. Ribes, R. Artuch, M. Pineda, 1998, Revista de neurologia.

Clinical, Genetic, and Therapeutic Diversity in 2 Patients With Severe Mevalonate Kinase Deficiency

J. Yagüe, A. Ribes, M. Couce, 2012, Pediatrics.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

L. de Meirleir, A. Ribes, W. Lissens, 2010, Clinical genetics.

A longitudinal study of antioxidant status in phenylketonuric patients.

R. Artuch, M. Vilaseca, J. Campistol, 2004, Clinical biochemistry.

Decreased serum ubiquinone-10 concentrations in phenylketonuria.

R. Artuch, M. Vilaseca, J. Campistol, 1999, The American journal of clinical nutrition.

Methylmalonic aciduria with homocystinuria: Biochemical studies, treatment, and clinical course of a Cbl-C patient

T. Suormala, A. Ribes, P. Briones, 1990, European Journal of Pediatrics.

Methylmalonic aciduria with homocystinuria.

A. Ribes, P. Briones, M. Vilaseca, 1984, Journal of inherited metabolic disease.

Selenium Concentration in Cerebrospinal Fluid Samples from a Paediatric Population

A. Ormazabal, R. Artuch, M. Vilaseca, 2010, Neurochemical Research.

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60

A. Ribes, P. Briones, A. Huckriede, 1997, Journal of Inherited Metabolic Disease.

Cerebrospinal fluid concentrations of idebenone in Friedreich ataxia patients.

E. Monrós, R. Artuch, M. Pineda, 2004, Neuropediatrics.

A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT‐CO1)

E. Ruiz-Pesini, R. Artuch, M. Pineda, 2008, Human mutation.

The allopurinol test in patients with Rett syndrome

M. Pineda, M. Vilaseca, J. Campistol, 1993, Journal of Inherited Metabolic Disease.

[Aspects of neuropathy in mitochondrial diseases].

R. Artuch, M. Pineda, J. Montoya, 2000, Revista de neurologia.

Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population.

R. Artuch, M. Vilaseca, J. Campistol, 2005, Developmental medicine and child neurology.

Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency.

A. Ribes, S. Duarte, C. Ortez, 2011, Journal of Alzheimer's disease : JAD.

Selective Screening for Hyperhomocysteinemia in Pediatric

R. Artuch, M. Pineda, M. Vilaseca, 1998 .

Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency

M. Pineda, M. García-Pérez, M. Vilaseca, 1999, Human mutation.

Cognitive functions in classic phenylketonuria and mild hyperphenyl‐alaninaemia: experience in a paediatric population

R. Artuch, M. Vilaseca, J. Campistol, 2005 .

Letters to the Editor

R. Artuch, M. Vilaseca, J. Campistol, 2003, Journal of Inherited Metabolic Disease.

Do adult patients with phenylketonuria improve their quality of life after introduction/resumption of a phenylalanine‐restricted diet?

M. Vilaseca, J. Campistol, F. Cambra, 2003, Acta paediatrica.

[Orientation of mental retardation from neurometabolic diseases].

R. Artuch, M. Pineda, B. Pérez-Dueñas, 2006, Revista de neurologia.

Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

A. Ribes, P. Briones, M. Vilaseca, 1990, Journal of Inherited Metabolic Disease.

Homocistinuria resistente a la piridoxina y gestación

M. Vilaseca, A. A. Monzón, M. I. Velasco, 2001 .

Tocopherol in inborn errors of intermediary metabolism.

R. Artuch, M. Pineda, M. Vilaseca, 1997, Clinica chimica acta; international journal of clinical chemistry.

An atypical French form of pyruvate carboxylase deficiency

A. Ribes, M. Rolland, M. Pineda, 1995, Brain and Development.

Long-chain polyunsaturated fatty acid concentration in patients with inborn errors of metabolism.

R. Artuch, M. Vilaseca, S. Meavilla, 2011, Nutricion hospitalaria.

Lipophilic antioxidants in patients with phenylketonuria 1 – 3

R. Artuch, M. Vilaseca, J. Campistol, 2002 .

cblE Type of homocystinuria due to methionine synthase reductase deficiency: Functional correction by minigene expression

T. Suormala, L. Vilarinho, J. Zeman, 2005, Human mutation.

Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria

R. Artuch, M. Vilaseca, J. Campistol, 2001, Journal of Inherited Metabolic Disease.

Serum ubiquinone-10 in a pediatric population.

R. Artuch, M. Vilaseca, J. Moreno, 1998, Clinical Chemistry.

Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin.

M. Vilaseca, J. Campistol, N. Lambruschini, 2010, Molecular genetics and metabolism.

Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I.

A. Ribes, F. Sanmartí, M. Pineda, 2009, Pediatric Neurology.

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

R. Artuch, A. Mas, B. Pérez-Dueñas, 2005, Molecular genetics and metabolism.

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.

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

L. Gort, M. Vilaseca, E. Quintana, 2010, Clinical genetics.

[Clinical, biomedical , neurological and molecular study of 11 patients with new mutations in PAH gene].

J. Mallolas, M. Milá, M. Vilaseca, 2000, Revista de neurologia.