J. Campistol

D. Cuadras, A. Ormazabal, R. Artuch, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Parkinsonism and Dystonia Associated with Adalimumab Legends to the Video Deletion in the Tyrosine Hydroxylase Gene in a Patient with a Mild Phenotype

B. Cormand, Wiley Online Library, J. Armstrong, 2022 .

Hypokinetic-rigid syndrome in children and inborn errors of metabolism.

C. Ortez, M. Pineda, À. García‐Cazorla, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Inborn errors of metabolism and motor disturbances in children

S. Dimauro, M. Pineda, À. García‐Cazorla, 2009, Journal of Inherited Metabolic Disease.

Encephalopathies with intracranial calcification in children: clinical and genetic characterization

A. Pichiecchio, N. Nardocci, L. Chiapparini, 2018, Orphanet Journal of Rare Diseases.

Global and regional volume changes in the brains of patients with phenylketonuria

J. Pujol, C. Soriano-Mas, H. Ortiz, 2006, Neurology.

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.

A. Ribes, À. García‐Cazorla, A. Capdevila, 2009, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Two novel mutations in exon 11 of the PAH gene (V1163 del TG and P362T) associated with classic phenylketonuria and mild phenylketonuria

X. Estivill, J. Mallolas, M. Milá, 1998, Human mutation.

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation.

X. Estivill, J. Mallolas, M. Milá, 1999 .

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

X. Estivill, J. Mallolas, M. Milá, 1999, Human Genetics.

New approach to osteopenia in phenylketonuric patients

B. Pérez-Dueñas, M. Vilaseca, J. Campistol, 2002, Acta paediatrica.

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

F. Villarroya, S. Kalko, E. Ruiz-Pesini, 2016, PloS one.

Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

X. Estivill, J. Mallolas, M. Milá, 2001, Journal of Molecular Medicine.

Alternating hemiplegia of childhood with a de novo mutation in ATP1A3 and changes in SLC2A1 responsive to a ketogenic diet.

R. Artuch, J. Pascual, J. Campistol, 2014, Pediatric neurology.

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.

B. Cormand, M. Ribasés, A. Ormazabal, 2007, Molecular genetics and metabolism.

Reply to He et al

A. Ribes, M. Milá, P. Briones, 2011, European Journal of Human Genetics.

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

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

Neurocognitive function in mild hyperphenylalaninemia

R. Artuch, M. Vilaseca, J. Campistol, 2011, Developmental medicine and 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 .

Fatal haemorrhagic infarct in an infant with homocystinuria.

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

Relationship between Mutation Genotype and Biochemical Phenotype in a Heterogeneous Spanish Phenylketonuria Population

M. Martínez-Pardo, M. Ugarte, M. Couce, 1997, European journal of human genetics : EJHG.

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

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

Impaired Neurotransmission in Early-treated Phenylketonuria Patients.

R. Artuch, J. Campistol, R. Gassió, 2016, Seminars in pediatric neurology.

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.

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

Pablo I Alarcón, P. Lapunzina, J. Nevado, 2018, Clinical genetics.

[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.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

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

Antioxidant status in hyperphenylalaninemia.

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

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

J. A. Arranz, F. Tort, A. Ribes, 2013, Journal of Inherited Metabolic Disease.

Polyunsaturated fatty acid status in patients with phenylketonuria

J. Campistol, P. Sanjurjo, L. Perteagudo, 1994, Journal of Inherited Metabolic Disease.

Neurotransmitter Imbalance in Early-Treated Phenylketonuria

Julieta, R. Artuch, J. Campistol, 2016 .

CDKL5 in different atypical Rett syndrome variants: Description of the first eight patients from Spain

J. Armstrong, M. Pineda, J. Campistol, 2012, Journal of Pediatric Epilepsy.

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.

X-inactivation of HSD17B10 revealed by cDNA analysis in two females with 17 (cid:12) -hydroxysteroid dehydrogenase 10 (HSD10) deficiency

A. Ribes, P. Briones, L. Gort, 2020 .

Biochemical phenotype and its relationship with genotype in hyperphenylalaninemia heterozygotes.

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

White matter alterations associated with chromosomal disorders

M. Baquero, J. Campistol, E. Geán, 2004, Developmental medicine and child neurology.

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

S. Nevsimalova, R. Artuch, A. Arzimanoglou, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Craniectomy in herpetic encephalitis.

J. Campistol, C. Fons, A. Rey, 2008, Pediatric neurology.

[Angelman syndrome: physical characteristics and behavioural phenotype in 37 patients with confirmed genetic diagnosis].

E. Monrós, F. Sanmartí, J. Conill, 2002, Revista de neurologia.

[Congenital errors of metabolism with epileptic seizures during the first years of life].

J. Campistol, 2002, Revista de neurologia.

Transition process from paediatric to adult care in patients with inborn errors of metabolism. Consensus statement

M. Couce, J. Campistol, Á. H. Ameijeiras, 2016 .

Epilepsy in Inherited Metabolic Disorders

A. Gil-Nagel, J. Pascual, J. Campistol, 2008, The neurologist.

Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines.

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2008, Clinical biochemistry.

Cranial ultrasound and chronological changes in molybdenum cofactor deficiency

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

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.

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

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

Treatable newborn and infant seizures due to inborn errors of metabolism.

B. Plecko, J. Campistol, 2015, Epileptic disorders : international epilepsy journal with videotape.

Treatable Inborn Errors of Metabolism with seizures in the newborn and infant period

B. Plecko, J. Campistol, 2015 .

Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models—a cohort study in 180 patients

A. Ribes, C. Greenberg, S. Kölker, 2014, Journal of Inherited Metabolic Disease.

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

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

Acute aluminum encephalopathy in an uremic patient.

J. Campistol, A. Cases, A. Botey, 1989, Nephron.

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

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

The cognitive effects of oxcarbazepine versus carbamazepine or valproate in newly diagnosed children with partial seizures

F. Donati, A. Aldenkamp, G. Gobbi, 2007, Seizure.

HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

A. Ormazabal, R. Artuch, E. Fernández-Álvarez, 2005, Journal of Neuroscience Methods.

[Hypoglossia-hypodactylia. Apropos of a case associated with Moebius' syndrome and temporomandibular ankylosis].

J. Campistol, M. Rissech, R. Baraibar, 1980, Pediatrie.

Visceral leishmaniasis-like cause of unexplained fever in a reno-pancreatic graft recipient.

A. Moreno, J. Campistol, J. Torregrosa, 1993, Nephron.

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

A. Ormazabal, R. Artuch, M. Pineda, 2006, Clinica chimica acta; international journal of clinical chemistry.

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.

Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

R. Artuch, J. Campistol, À. García Cazorla, 2016, Developmental medicine and 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 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.

Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood—a study of 155 patients

I. Scheffer, D. Goldstein, S. Sisodiya, 2015, Orphanet Journal of Rare Diseases.

[Neurological dysfunction induced by bilirrubin].

J. Campistol, V. Cusí, M. Iriondo, 2012, Neurologia.

Cognitive functions and the antioxidant system in phenylketonuric patients.

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

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Vicente A. Yépez, J. Gagneur, H. Prokisch, 2022, Brain pathology.

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.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Miguel Ángel Martínez, N. Rahman, Pablo I Alarcón, 2019, European Journal of Human Genetics.

Secondary abnormalities of neurotransmitters in infants with neurological disorders

A. Ormazabal, R. Artuch, M. Pineda, 2007, Developmental medicine and child neurology.

Infectious Acute Hemicerebellitis

J. Campistol, A. Sans, C. Boix, 2004, Journal of child neurology.

Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome.

F. Sanmartí, J. Conill, J. Campistol, 2005, Epileptic disorders : international epilepsy journal with videotape.

[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].

B. Cormand, M. Ribasés, A. Ormazabal, 2006, Medicina clinica.

[Perinatal intracranial hemorrhage due to immune thrombocytopenia].

J. Campistol, M. Iriondo, A. López-Lafuente, 1999, Revista de neurologia.

X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency

A. Ribes, M. Milá, P. Briones, 2010, European Journal of Human Genetics.

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.

Tetrahydrobiopterin responsiveness in patients with phenylketonuria.

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

Sturge-Weber disease with unusual cerebral atrophy and hydrocephalus

J. Campistol, C. Gonzalez-Campo, À. García-Cazorla, 1999 .

Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults.

Paul Casaer, Jaume Campistol, Alexis Arzimanoglou, 2010, Brain : a journal of neurology.

Effectiveness and Safety of Azithromycin on the Treatment of Cyclosporine-Induced Gingival Overgrowth

F. Oppenheimer, J. Campistol, D. Soy, 1998, Nephron.

Epstein‐Barr virus related opsoclonus‐myoclonus‐ataxia does not rule out the presence of occult neuroblastic tumors

T. Cardesa-Salzmann, J. Mora, J. Campistol, 2006, Pediatric blood & cancer.

TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment

P. Rizzu, A. Ormazabal, R. Artuch, 2012, Brain and Development.

Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: High prevalence of T191M and absence of I278T or G307S

L. Vilarinho, D. Grinberg, S. Balcells, 2003, Human mutation.

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.

Executive functioning in context: Relevance for treatment and monitoring of phenylketonuria.

S. Huijbregts, J. Campistol, R. Gassió, 2013, Molecular genetics and metabolism.

Lipophilic antioxidants in patients with phenylketonuria.

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

Acrodermatitis enteropathica-like syndrome in a dialysis patient.

R. Deulofeu, J. Campistol, D. Soy, 1995, Nephron.

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.

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Rafael Artuch, Aida Ormazabal, Keith Hyland, 2008, Molecular genetics and metabolism.

School performance in early and continuously treated phenylketonuria.

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

Environmental circumstances influencing tic expression in children.

B. Pérez-Dueñas, E. Fernández-Álvarez, J. Campistol, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Plasma coenzyme Q10 status is impaired in selected genetic conditions

Eduardo Ruiz-Pesini, Julio Montoya, Rafael Artuch, 2019, Scientific Reports.

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

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

X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

N. Baena, G. Antiñolo, S. Gökben, 2019, Scientific Reports.

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.

Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene

K. Majamaa, P. Briones, L. Nijtmans, 2003, Annals of neurology.

Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, Gábor Csányi, 2017, Scientific Reports.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

[Inborn errors of metabolism with neurological manifestations in the neonatal period].

J. Campistol, 2007, Medicina.

[Approximation to the diagnosis of congenital metabolic disorders with neuroimaging].

J. Campistol, 1999, Revista de neurología (Ed. impresa).

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

Robert W. Taylor, J. Armstrong, R. Artuch, 2015, Front. Genet..

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.

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.

Topiramate in the prophylactic treatment of migraine in children.

J. Herranz, J. Campistol, C. Casas, 2005, Journal of child neurology.

Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype

Pier D Lambiase, Henry Houlden, Josemir W Sander, 2015, Brain : a journal of neurology.

A golgi study of the polymicrogyric cortex in aicardi syndrome

I. Ferrer, J. Campistol, M. Cusí, 1986, Brain and Development.

Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET

X. Setoain, J. Aparicio, S. Rubí, 2022, Seizure.

Validation of FDG‐PET/MRI coregistration in nonlesional refractory childhood epilepsy

N. Bargalló, A. Calvo, F. Sanmartí, 2011, Epilepsia.

Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review.

V. Leuzzi, J. Campistol, Francesca Nardecchia, 2023, Molecular genetics and metabolism.

White matter microstructural damage in early treated phenylketonuric patients

P. Ripollés, A. Ormazabal, R. Artuch, 2018, Orphanet Journal of Rare Diseases.

[Status epilepticus in children. Experience with intravenous valproate. Update of treatment guidelines].

J. Campistol, J. Ortega, A. Fernández, 1999, Revista de neurologia.

The allopurinol test in patients with Rett syndrome

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

Identifying the cortical substrates of interictal epileptiform activity in patients with extratemporal epilepsy: An EEG‐fMRI sequential analysis and FDG‐PET study

N. Bargalló, F. Sanmartí, A. Donaire, 2013, Epilepsia.

Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

F. Sedel, A. Ormazabal, R. Artuch, 2017, Scientific Reports.

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 .

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

Aurora Martínez, M. Ugarte, R. Artuch, 2020, Human mutation.

Neurological dysfunction induced by bilirrubin

J. Campistol, V. Cusí, M. Iriondo, 2017 .

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 .

[Amino acids in cerebrospinal fluid and plasma: its usefulness in the study of neuropaediatric diseases].

A. Ormazabal, R. Artuch, J. Campistol, 2012, Revista de neurologia.

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.

Renal Amyloidosis Secondary to Acne Conglobata

J. Campistol, F. Pérez-Villa, A. Botey, 1989, International journal of dermatology.

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.

[Hypotonia in the neonatal period: 12 years' experience].

J. Campistol, J. Colomer, M. Iriondo, 2013, Revista de neurologia.

Lipophilic antioxidants in patients with phenylketonuria 1 – 3

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

Neurological dysfunction induced by bilirrubin

J. Campistol, V. Cusí, M. Iriondo, 2012 .

[Neurotoxicity due to methotrexate in paediatric patients. Description of the clinical symptoms and neuroimaging findings].

J. Campistol, M. C. Fons-Estupiña, Montserrat Garcia-Puig, 2012, Revista de neurologia.

[Alternating hemiplegia of childhood: ATP1A3 gene analysis in 16 patients].

R. Velazquez, J. Campistol, C. Fons, 2014, Medicina clínica (Ed. impresa).

Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

T. Klockgether, S. Paus, A. Ormazabal, 2008, Movement disorders : official journal of the Movement Disorder Society.

Subtle visuomotor deficits and reduced benefit from practice in early treated phenylketonuria

J. Navarra, C. Caprile, J. Campistol, 2017, Journal of clinical and experimental neuropsychology.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

N. Baena, G. Antiñolo, S. Gökben, 2017, Scientific Reports.

Plasma coenzyme Q10 status is impaired in selected genetic conditions

P. Navas, E. Ruiz-Pesini, R. Artuch, 2019, Scientific Reports.

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

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

Glutaric aciduria type I: unusual biochemical presentation.

A. Ribes, D. Millington, E. Christensen, 1992, The Journal of pediatrics.

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

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

[Orally administered drugs in the treatment of spasticity].

J. Campistol, 2003, Revista de neurología (Ed. impresa).

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

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

Hemiplejía alternante de la infancia: estudio del gen ATP1A3 en 16 pacientes

R. Velazquez, J. Campistol, C. Fons, 2014 .

Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype

B. Cormand, J. Armstrong, A. Ormazabal, 2011, Movement disorders : official journal of the Movement Disorder Society.

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy.

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

Epilepsy in Inborn Errors of Metabolism With Therapeutic Options.

J. Campistol, 2016, Seminars in pediatric neurology.

Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2008, Movement disorders : official journal of the Movement Disorder Society.

PERINATAL ASPHYXIA MAY CAUSE REDUCTION IN CSF DOPAMINE METABOLITE CONCENTRATIONS

A. Ormazabal, R. Artuch, B. Pérez-Dueñas, 2007, Neurology.