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51

Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

Sofia T. Duarte, Carlos Ortez, Ana Pérez, Rafael Artuch, Angels García-Cazorla

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

52

Genistein supplementation in patients affected by Sanfilippo disease

Verónica Delgadillo, Maria del Mar O’Callaghan, Rafael Artuch, Raquel Montero, Mercedes Pineda

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

53

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

Ana Isabel Vega, Celia Pérez-Cerdá, David Abia, Alejandra Gámez, Paz Briones, Rafael Artuch, Lourdes R. Desviat, Magdalena Ugarte, Belén Pérez

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 434 KB

english, 2011

54

Selenium Concentration in Cerebrospinal Fluid Samples from a Paediatric Population

Mireia Tondo, Juan Moreno, Mercedes Casado, Nuria Brandi, Cristina Sierra, Maria A. Vilaseca, Aida Ormazabal, Rafael Artuch

Journal:

Neurochemical Research

Year:

2010

Language:

english

File:

PDF, 165 KB

english, 2010

55

Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich’s Ataxia

Daniel Velasco-Sánchez, Asuncion Aracil, Raquel Montero, Ana Mas, Lorenzo Jiménez, Mar O’Callaghan, Maria Tondo, Antoni Capdevila, Josep Blanch, Rafael Artuch, Mercedes Pineda

Journal:

Year:

2011

Language:

english

File:

PDF, 197 KB

english, 2011

56

A longitudinal study of antioxidant status in phenylketonuric patients

Rafael Artuch, Catrina Colomé, Cristina Sierra, Nuria Brandi, Nilo Lambruschini, Jaume Campistol, Dolores Ugarte, Maria A Vilaseca

Journal:

Clinical Biochemistry

Year:

2004

Language:

english

File:

PDF, 147 KB

english, 2004

57

Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

Ester Quintana, Raquel Montero, Mercedes Casado, Aleix Navarro-Sastre, María A. Vilaseca, Paz Briones, Rafael Artuch

Journal:

Journal of Chromatography B

Year:

2009

Language:

english

File:

PDF, 1.07 MB

english, 2009

58

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

Aida Ormazabal, Angels García-Cazorla, Yolanda Fernández, Emilio Fernández-Álvarez, Jaume Campistol, Rafael Artuch

Journal:

Journal of Neuroscience Methods

Year:

2005

Language:

english

File:

PDF, 185 KB

english, 2005

59

Methods for the diagnosis of creatine deficiency syndromes: A comparative study

Angela Arias, Aida Ormazabal, Juan Moreno, Bernardino González, Maria Antonia Vilaseca, Judit García-Villoria, Teresa Pàmpols, Paz Briones, Rafael Artuch, Antonia Ribes

Journal:

Journal of Neuroscience Methods

Year:

2006

Language:

english

File:

PDF, 250 KB

english, 2006

60

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

Rafael Artuch, Catrina Colomé, Ana Playán, María J Alcaine, Paz Briones, Julio Montoya, Maria A Vilaseca, Mercé Pineda

Journal:

Clinical Biochemistry

Year:

2000

Language:

english

File:

PDF, 183 KB

english, 2000

61

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

Eva López-Quesada, Maria-Antònia Vilaseca, Rafael Artuch, Elena Gómez, Josep M Lailla

Journal:

Clinical Biochemistry

Year:

2003

Language:

english

File:

PDF, 79 KB

english, 2003

62

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

R Urreizti, AA Moya-García, A Pino-Ángeles, M Cozar, A Langkilde, U Fanhoe, C Esteves, J Arribas, MA Vilaseca, B Pérez-Dueñas, M Pineda, V González, R Artuch, A Baldellou, L Vilarinho, B Fowler, A Rib

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 761 KB

english, 2010

63

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

C Espinós, A García-Cazorla, D Martínez-Rubio, E Martínez-Martínez, MA Vilaseca, B Pérez-Dueñas, V Kožich, F Palau, R Artuch

Journal:

Clinical Genetics

Year:

2010

Language:

english

File:

PDF, 595 KB

english, 2010

64

3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

M Pineda, M A Vilaseca, R Artuch, S Santos, MM García González, I Sau, A Aracil, E Van Schaftingen, J Jaeken

Journal:

Developmental Medicine & Child Neurology

Year:

2000

Language:

english

File:

PDF, 311 KB

english, 2000

65

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

Rosa Gassió, Rafael Artuch, Maria Antonia Vilaseca, Eugenia Fusté, Cristina Boix, Anna Sans, Jaume Campistol

Journal:

Developmental Medicine & Child Neurology

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

66

Secondary abnormalities of neurotransmitters in infants with neurological disorders

A García-Cazorla, M Serrano, B Pérez-Dueñas, V González, A Ormazábal, M Pineda, E Fernández-álvarez, J M D Campistol, R M D Artuch

Journal:

Developmental Medicine & Child Neurology

Year:

2007

Language:

english

File:

PDF, 79 KB

english, 2007

67

Neurocognitive function in mild hyperphenylalaninemia

JAUME CAMPISTOL, ROSA GASSIÓ, RAFAEL ARTUCH, Ma ANTONIA VILASECA, for the PKU Follow-up Unit

Journal:

Developmental Medicine & Child Neurology

Year:

2011

Language:

english

File:

PDF, 125 KB

english, 2011

68

Epilepsy spectrum in cerebral creatine transporter deficiency

Carmen Fons, Ángela Sempere, Francesc X. Sanmartí, Ángela Arias, Pilar Póo, Mercedes Pineda, Antonia Ribes, Begoña Merinero, Maria A. Vilaseca, Gajja S. Salomons, Rafael Artuch, Jaume Campistol

Journal:

Year:

2009

Language:

english

File:

PDF, 118 KB

english, 2009

69

Plasma total-homocysteine in anorexia nervosa

Moyano, D, Vilaseca, M A, Artuch, R, Valls, C, Lambruschini, N

Journal:

European Journal of Clinical Nutrition

Year:

1998

Language:

english

File:

PDF, 81 KB

english, 1998

70

Plasma amino acids in anorexia nervosa

Moyano, D, Vilaseca, M A, Artuch, R, Lambruschini, N

Journal:

European Journal of Clinical Nutrition

Year:

1998

Language:

english

File:

PDF, 135 KB

english, 1998

71

Plasma thiols and their determinants in phenylketonuria

Colomé, C, Artuch, R, Sierra, C, Brandi, N, Lambruschini, N, Campistol, J, Vilaseca, M-A

Journal:

European Journal of Clinical Nutrition

Year:

2003

Language:

english

File:

PDF, 87 KB

english, 2003

72

Low serum carnitine in HIV-infected children on antiretroviral treatment

Vilaseca, M A, Artuch, R, Sierra, C, Pineda, J, López-Vilches, M A, Muñoz-Almagro, C, Fortuny, C

Journal:

European Journal of Clinical Nutrition

Year:

2003

Language:

english

File:

PDF, 118 KB

english, 2003

73

Increased urine methylmalonic acid excretion in infants with apnoeas

R. Artuch, M. Calvo, A. Ribes, F. Camarasa, M. A. Vilaseca

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 93 KB

english, 1998

74

Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease

R. Artuch, M. A. Vilaseca, M. Pineda

Journal:

Journal of Inherited Metabolic Disease

Year:

1998

Language:

english

File:

PDF, 77 KB

english, 1998

75

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

R. Artuch, C. Colomé, M.A. Vilaseca, C. Sierra, F.J. Cambra, N. Lambruschini, J. Campistol

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001

76

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia

P. Briones, M.A. Vilaseca, E. Schollen, I. Ferrer, M. Maties, C. Busquets, R. Artuch, L. Gort, M. Marco, E. van Schaftingen, G. Matthijs, J. Jaeken, A. Chabás

Journal:

Journal of Inherited Metabolic Disease

Year:

2003

Language:

english

File:

PDF, 89 KB

english, 2003

77

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

R. Montero, R. Artuch, P. Briones, A. Nascimento, A. García-Cazorla, M.A. Vilaseca, J.A. Śnchez-Alćzar, P. Navas, J. Montoya, M. Pineda

Journal:

Year:

2005

Language:

english

File:

PDF, 61 KB

english, 2005

78

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

Mercedes Serrano, Mónica Rebollo, Christel Depienne, Agnès Rastetter, Emilio Fernández-Álvarez, Jordi Muchart, Loreto Martorell, Rafael Artuch, José A. Obeso, Belén Pérez-Dueñas

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

79

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

M. Casado, M. M. O’Callaghan, R. Montero, C. Pérez-Cerda, B. Pérez, P. Briones, E. Quintana, J. Muchart, A. Aracil, M. Pineda, R. Artuch

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

80

Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies

Sofia Duarte, Francesc Sanmarti, Veronica Gonzalez, Belen Perez Duenas, Aida Ormazabal, Rafael Artuch, Jaime Campistol, Angels Garcia-Cazorla

Journal:

Brain and Development

Year:

2008

Language:

english

File:

PDF, 109 KB

english, 2008

81

Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment

T. Temudo, M. Rios, C. Prior, I. Carrilho, M. Santos, P. Maciel, J. Sequeiros, M. Fonseca, J. Monteiro, P. Cabral, J.P. Vieira, A. Ormazabal, R. Artuch

Journal:

Brain and Development

Year:

2009

Language:

english

File:

PDF, 198 KB

english, 2009

82

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

Carmen Fons, Patrizia Rizzu, Angels Garcia-Cazorla, Loreto Martorell, Aida Ormazabal, Rafael Artuch, Jaume Campistol, Emilio Fernandez-Alvarez

Journal:

Brain and Development

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

83

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

I. Marín-Valencia, M.A. Vilaseca, M. Thió, A. García-Cazorla, R. Artuch, J. Campistol

Journal:

European Journal of Paediatric Neurology

Year:

2010

Language:

english

File:

PDF, 172 KB

english, 2010

84

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

B. Pérez-Dueñas, A. García-Cazorla, M. Pineda, P. Poo, J. Campistol, V. Cusí, E. Schollen, G. Matthijs, S. Grunewald, P. Briones, C. Pérez-Cerdá, R. Artuch, M.A. Vilaseca

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 410 KB

english, 2009

85

Novel features in the evolution of adenylosuccinate lyase deficiency

Belén Pérez-Dueñas, Ángela Sempere, Jaume Campistol, Itziar Alonso-Colmenero, María Díez, Verónica González, Begoña Merinero, Lourdes R. Desviat, Rafael Artuch

Journal:

European Journal of Paediatric Neurology

Year:

2012

Language:

english

File:

PDF, 730 KB

english, 2012

86

DMP03 Pontocerebellar hypoplasia type 2: clinical and biochemical findings

C. Fons, A. Ormazabal, R. Artuch, E. Fernandez, J. Campistol, A. Garćla

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

87

MLP021 Secondary alterations of neurotransmitters

V. Gonzalez, A. Garcia, B. Perez, R. Artuch, A. Ormazabal, E. Fernandez, J. Campistol

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 42 KB

english, 2007

88

O6-3 Coenzyme Q10 responsive ataxia

M.M. O'Callaghan, R. Montero, A. Aracil, C. Espinós, F. Palau, P. Navas, R. Artuch, M. Pineda, P. Briones

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

89

P306 Levodopa-induced dyskinesias in tyrosine hydroxylase deficiency

R.P. Pons, M.S. Serrano, I.O. Orfanou, A.G. Garzia-Cazorla, R.A. Artuch, S.Y. Youroukos

Journal:

European Journal of Paediatric Neurology

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

90

1FC3.4 Mutation load of m.3243A>G in tRNALeu in different samples in a family affected of MELAS

M. del Mar O'Callaghan Gordo, M. Pineda, R. Montero, E. Ruiz-Pesini, R. Artuch, J. Montoya

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 36 KB

english, 2011

91

3FC1.5 Biotin-responsive basal ganglia disease: New features in two Spanish siblings with mutations in the second thiamine transporter gene SLC19A3

M. Serrano, V. González, M. Pineda, E. Fernandez-Alvarez, R. Artuch, L. Martorell, F. Sedel, C. Depienne, B. Perez-Dueñas

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

92

Evaluation of hyperhomocysteinaemia in children with stroke

Esther Cardo, M.Antónia Vilaseca, Jaume Campistol, Rafael Artuch, Catrina Colomé, Mercé Pineda

Journal:

European Journal of Paediatric Neurology

Year:

1999

Language:

english

File:

PDF, 518 KB

english, 1999

93

Anti-Epileptic drug treatment in children: Hyperhomocysteinaemia, B-Vitamins and the 677C→T Mutation of the Methylenetetrahydrofolate Reductase Gene

M Antònia Vilaseca, Eugènia Monrós, Rafael Artuch, Catrina Colomé, Carme Farré, Carme Valls, Esther Cardo, Mercè Pineda

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 157 KB

english, 2000

94

Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

Ana Roche, Belén Pérez-Dueñas, Juan Antonio Camacho, Rosa J. Torres, Juan G. Puig, Angels García-Cazorla, Rafael Artuch

Journal:

American Journal of Kidney Diseases

Year:

2009

Language:

english

File:

PDF, 268 KB

english, 2009

95

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Alberto Casarin, Jose Carlos Jimenez-Ortega, Eva Trevisson, Vanessa Pertegato, Mara Doimo, Maria Lara Ferrero-Gomez, Sara Abbadi, Rafael Artuch, Catarina Quinzii, Michio Hirano, Giuseppe Basso, Carlos

Journal:

Biochemical and Biophysical Research Communications

Year:

2008

Language:

english

File:

PDF, 731 KB

english, 2008

96

Mutations in the EXT1 and EXT2 genes in patients with multiple osteochondromas from Spain

P. Sarrion, A. Sangorrin, R. Urreizti, R. Artuch, L. Martorell, J. Armstrong, J. Anton, F. Torner, M.A. Vilaseca, S. Balcells, D. Grinberg

Journal:

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

97

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

Aida Ormazabal, Angels García-Cazorla, Belén Pérez-Dueñas, Veronica Gonzalez, Emilio Fernández-Álvarez, Mercé Pineda, Jaume Campistol, Rafael Artuch

Journal:

Clinica Chimica Acta

Year:

2006

Language:

english

File:

PDF, 101 KB

english, 2006

98

Mitochondrial diseases mimicking neurotransmitter defects

Angels Garcia-Cazorla, Sofia Duarte, Mercedes Serrano, Andres Nascimento, Aida Ormazabal, Ines Carrilho, Paz Briones, Julio Montoya, Rafael Garesse, Pere Sala-Castellvi, Mercedes Pineda, Rafael Artuch

Journal:

Year:

2008

Language:

english

File:

PDF, 124 KB

english, 2008

99

School Performance in Early and Continuously Treated Phenylketonuria

Rosa Gassió, Eugenia Fusté, Anna López-Sala, Rafael Artuch, María Antonia Vilaseca, Jaume Campistol

Journal:

Pediatric Neurology

Year:

2005

Language:

english

File:

PDF, 94 KB

english, 2005

100

Dyskinesias as a Limiting Factor in the Treatment of Segawa Disease

Eduardo López-Laso, Katrin Beyer, Thomas Opladen, Rafael Artuch, Rachel Saunders-Pullman

Journal:

Pediatric Neurology

Year:

2012

Language:

english

File:

PDF, 119 KB

english, 2012