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Paz Briones

Research Profile

Living Beings

Physiology

Mutation

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DNA Mutational Analysis

Chemicals & Drugs

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Glycosylation

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Spain

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TOP 3
Sonia Pajares; Angela Arias; Paz Briones; Judit García-Villoria; Antonia Ribes
Role of creatine as biomarker of mitochondrial diseases.
Daniel J M Fernández-Ayala; Angela Gavilán; Ignacio Guerra; Michio Hirano; Sandra Jiménez-Gancedo; Rafael Artuch; Paz Briones; Maria V Cascajo; Rafael De Cabo; Salvatore DiMauro; Leonardo Salviati; Plácido Navas
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.
A Arias; Paz Briones; N Buján; Judit García-Villoria; A Rojo; Antonia Ribes
Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.

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All Publications

2013: Sonia Pajares; Angela Arias; Paz Briones; Judit García-Villoria; Antonia Ribes
Role of creatine as biomarker of mitochondrial diseases.
Molecular genetics and metabolism 2013;108(2):119-24.
2013: Daniel J M Fernández-Ayala; Angela Gavilán; Ignacio Guerra; Michio Hirano; Sandra Jiménez-Gancedo; Rafael Artuch; Paz Briones; Maria V Cascajo; Rafael De Cabo; Salvatore DiMauro; Leonardo Salviati; Plácido Navas
Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.
BMJ open 2013;3(3):.
2012: A Arias; Paz Briones; N Buján; Judit García-Villoria; A Rojo; Antonia Ribes
Analysis of coenzyme Q(10) in lymphocytes by HPLC-MS/MS.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2012;908():23-6.
2012: Aleix Navarro-Sastre; Mónica Ruiz Pons; Frederic Tort; Maria Unceta; Maria Eugenia Yoldi; Paz Briones; Jaume Campistol; Jaume Colomer; Judit Garcia-Villoria; Ester López-Gallardo; Maria Jesús Martinez; Julio Montoya; Andrés Nascimento; Antonia Ribes
Mitochondrial DNA depletion syndrome: new descriptions and the use of citrate synthase as a helpful tool to better characterise the patients.
Molecular genetics and metabolism 2012;107(3):409-15.
2012: María del Mar O'Callaghan; Sonia Emperador; Isidre Ferrer; Angels Garcia-Cazorla; Diana Gonzaga; Cristina Jou; Ester López-Gallardo; Raquel Montero; Rafael Artuch; Paz Briones; Nuria Buján; Mercè Pineda; Eduardo Ruiz-Pesini; Julio Montoya
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset.
Neurogenetics 2012;13(3):245-50.
2011: Aleix Navarro-Sastre; Antonia Ribes; Encarnació Riudor; Oliver Stehling; Frederic Tort; Magdalena Ugarte; Marta A Uzarska; Julian Vaquerizo; José Antonio Arranz; Paz Briones; Jaume Campistol; Mireia Del Toro; Orly Elpeleg; Aida Font; Angels Garcia-Cazorla; Judit Garcia-Villoria; Luis Gonzalez Gutierrez-Solana; M Teresa Labayru; Joseba Landa; Begoña Merinero; Roland Lill
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
American journal of human genetics 2011;89(5):656-67.
2011: Ana Isabel Vega; Celia Pérez-Cerdá; Magdalena Ugarte; David Abia; Rafael Artuch; Paz Briones; Lourdes R Desviat; Alejandra Gámez; Belén Pérez
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.
Journal of inherited metabolic disease 2011;34(4):929-39.
2011: Aida Font; Judit García-Villoria; Aleix Navarro-Sastre; Paz Briones; Victòria Cusí; Frederic Tort; Antonia Ribes
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle Tissue.
JIMD reports 2011;1():125-9.
2011: Belén Pérez; Rafael Artuch; Paz Briones; M J Ecay; L Gort; Gert Matthijs; Dulce Quelhas; E Quintana; Magdalena Ugarte; A I Vega; Celia Pérez-Cerdá
The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.
JIMD reports 2011;1():117-23.
2010: Judit García-Villoria; Laura Gort; Irene Madrigal; Carme Fons; Cristina Fernández; Aleix Navarro-Sastre; Montserrat Milà; Paz Briones; Angels García-Cazorla; Jaume Campistol; Antonia Ribes
X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17β-hydroxysteroid dehydrogenase 10 deficiency.
European journal of human genetics : EJHG 2010;18(12):1353-5.
2010: José Guevara-Campos; Lucía González-Guevara; Paz Briones; Ester López-Gallardo; Nuria Bulán; Eduardo Ruiz-Pesini; Denisse Ramnarine; Julio Montoya
Autism associated to a deficiency of complexes III and IV of the mitochondrial respiratory chain.
Investigación clínica 2010;51(3):423-31.
2010: Ramon Martí; Andrés Nascimento; Jaume Colomer; Maria Carmen Lara; Ester López-Gallardo; Eduardo Ruiz-Pesini; Julio Montoya; Antoni L Andreu; Paz Briones; Mercè Pineda
Hearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.
Pediatric research 2010;68(2):151-4.
2010: Mercedes Serrano; María Teresa García-Silva; Elena Martin-Hernandez; Maria del Mar O'Callaghan; Pilar Quijada; Ana Martinez-Aragón; Aida Ormazábal; Alberto Blázquez; Miguel A Martín; Paz Briones; Ester López-Gallardo; Eduardo Ruiz-Pesini; Julio Montoya; Rafael Artuch; Mercedes Pineda
Kearns-Sayre syndrome: cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features.
Mitochondrion 2010;10(5):429-32.
2010: E Quintana; Laura Gort; Christiane Busquets; A Navarro-Sastre; Willy Lissens; S Moliner; M Lluch; Maria Antonia Vilaseca; L De Meirleir; Antonia Ribes; Paz Briones
Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency.
Clinical genetics 2010;77(5):474-82.
2010: J M Flanagan; G McMahon; S H Brendan Chia; P Fitzpatrick; Orna Tighe; Charles O'Neill; Paz Briones; L Gort; Libor Kozak; A Magee; Eileen Naughten; B Radomyska; M Schwartz; J S Shin; W M Strobl; Linda Tyfield; H R Waterham; H Russell; G Bertorelle; J K V Reichardt; Philip D Mayne; David T Croke
The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.
Heredity 2010;104(2):148-54.
2009: E Quintana; Antonia Ribes; J R Ricoy; W Sperl; M A Tortoledo; A Cabello; A Font; M T García Silva; J Koch; M Lluch; J A Mayr; S Moliner; L Ozaez; Paz Briones
PDH E1β deficiency with novel mutations in two patients with Leigh syndrome.
Journal of inherited metabolic disease 2009;32 Suppl 1():S339-43.
2009: E Quintana; Antonia Ribes; L Sturiale; M L Couce; C Fernandez; Raquel Montero; L Aldamiz-Echevarria; F Andrade; Rafael Artuch; R Barone; Paz Briones
Secondary disorders of glycosylation in inborn errors of fructose metabolism.
Journal of inherited metabolic disease 2009;32 Suppl 1():S273-8.
2009: Eva Richard; Ana Jorge-Finnigan; Judit Garcia-Villoria; Begoña Merinero; Lourdes R Desviat; Laura Gort; Paz Briones; Fátima Leal; Celia Pérez-Cerdá; Antonia Ribes; Magdalena Ugarte; Belén Pérez
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Human mutation 2009;30(11):1558-66.
2009: Ester Quintana; Raquel Montero; Mercedes Casado; Aleix Navarro-Sastre; María A Vilaseca; Paz Briones; Rafael Artuch
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2009;877(24):2513-8.
2009: Maria Guitart; Antoni L Andreu; Elena García-Arumi; Paz Briones; Ester Quintana; Anna M Gómez-Foix; Cèlia García-Martínez
FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.
Mitochondrion 2009;9(4):266-72.
2009: Laura Gort; Ester Quintana; Sonia Moliner; Lidia González-Quereda; Tania López-Hernández; Paz Briones
An update on the molecular analysis of classical galactosaemia patients diagnosed in Spain and Portugal: 7 new mutations in 17 new families.
Medicina clínica 2009;132(18):709-11.
2009: Raquel Montero; Jose A Sánchez-Alcázar; Paz Briones; Aleix Navarro-Sastre; Ester Gallardo; Belén Bornstein; Dolores Herrero-Martín; Henry Rivera; Miguel A Martin; Ramón Marti; Angels García-Cazorla; Julio Montoya; Plácido Navas; Rafael Artuch
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: a case report.
Clinical biochemistry 2009;42(7-8):742-5.
2009: Ester Quintana; Aleix Navarro-Sastre; José María Hernández-Pérez; Judit García-Villoria; Raquel Montero; Rafael Artuch; Antonia Ribes; Paz Briones
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
Clinical biochemistry 2009;42(4-5):408-15.
2009: Angeles Rodríguez-Hernández; Mario D Cordero; Leonardo Salviati; Rafael Artuch; Mercé Pineda; Paz Briones; Lourdes Gómez Izquierdo; David Cotán; Plácido Navas; José A Sánchez-Alcázar
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy.
Autophagy 2009;5(1):19-32.
2008: María D Herrero-Martín; Mercedes Pineda; Paz Briones; Ester López-Gallardo; Magdalena Carreras; Mercedes Benac; Miguel Angel Idoate; Maria Antonia Vilaseca; Rafael Artuch; Manuel J López-Pérez; Eduardo Ruiz-Pesini; Julio Montoya
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
Human mutation 2008;29(8):E112-22.
2008: Aleix Navarro-Sastre; Elena Martín-Hernández; Yolanda Campos; Ester Quintana; Enrique Medina; Rogelio Simón de Las Heras; Montserrat Lluch; Alberto Muñoz; Pilar del Hoyo; Rebeca Martín; Laura Gort; Paz Briones; Antonia Ribes
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Molecular genetics and metabolism 2008;94(2):234-9.
2008: Angels Garcia-Cazorla; E V Quadros; A Nascimento; M T Garcia-Silva; Paz Briones; Julio Montoya; A Ormazábal; Rafael Artuch; J M Sequeira; N Blau; J Arenas; Manuel Pineda; V T Ramaekers
Mitochondrial diseases associated with cerebral folate deficiency.
Neurology 2008;70(16):1360-2.
2007: Angela Arias; Marc Corbella; Carmen Fons; Angela Sempere; Judit García-Villoria; Aida Ormazabal; Pilar Poo; Manuel Pineda; Maria Antonia Vilaseca; Jaume Campistol; Paz Briones; Teresa Pàmpols; Gajja S Salomons; Antonia Ribes; Rafael Artuch
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening.
Clinical biochemistry 2007;40(16-17):1328-31.
2007: E Quintana; S Gala; Angels García-Cazorla; Raquel Montero; Carmen Muñoz-Almagro; Maria Antonia Vilaseca; Paz Briones; Rafael Artuch
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis.
Journal of inherited metabolic disease 2007;30(2):267.
2007: Els Schollen; Liesbeth Keldermans; François Foulquier; Paz Briones; Amparo Chabas; Félix Sánchez-Valverde; Maciej Adamowicz; Ewa Pronicka; Ron A Wevers; Gert Matthijs
Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.
Molecular genetics and metabolism 2007;90(4):408-13.
2007: François Foulquier; Daniel Ungar; Ellen Reynders; Renate Zeevaert; Philippa Mills; Maria Teresa García-Silva; Paz Briones; Bryan Winchester; Willy Morelle; Monty Krieger; Willem ANNAERT; Gert Matthijs
A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
Human molecular genetics 2007;16(7):717-30.
2007: José R Blesa; Abelardo Solano; Paz Briones; Jesús Angel Prieto-Ruiz; José Hernández-Yago; Francisco Coria
Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene.
Neuromolecular medicine 2007;9(4):285-91.
2007: Raquel Montero; Manuel Pineda; Asun Aracil; Maria Antonia Vilaseca; Paz Briones; José A Sánchez-Alcázar; Plácido Navas; Rafael Artuch
Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency.
Cerebellum (London, England) 2007;6(2):118-22.
2007: Daniel Fernandez-Moreira; Cristina Ugalde; Roel Smeets; Richard J T Rodenburg; Eduardo Lopez-Laso; Maria L Ruiz-Falco; Paz Briones; Miguel A Martin; Jan A M Smeitink; Joaquín Arenas
X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Annals of neurology 2007;61(1):73-83.
2006: Laura Gort; M D Boleda; Linda Tyfield; Laura Vilarinho; Isabel Rivera; Maria Luís Cardoso; M Santos-Leite; ML Girós; Paz Briones
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Journal of inherited metabolic disease 2006;29(6):739-42.
2006: Angela Arias; Aida Ormazabal; Juan Moreno; Bernardino González; Maria Antonia Vilaseca; Judit García-Villoria; Teresa Pàmpols; Paz Briones; Rafael Artuch; Antonia Ribes
Methods for the diagnosis of creatine deficiency syndromes: a comparative study.
Journal of neuroscience methods 2006;156(1-2):305-9.
2006: Rafael Artuch; gloria brea-calvo; Paz Briones; Asun Aracil; Marta Galván; Carmen Espinós; Jordi Corral; Victor Volpini; Antonia Ribes; Antoni L Andreu; Francesc Palau; José A Sánchez-Alcázar; Plácido Navas; Manuel Pineda
Cerebellar ataxia with coenzyme Q10 deficiency: diagnosis and follow-up after coenzyme Q10 supplementation.
Journal of the neurological sciences 2006;246(1-2):153-8.
2006: Manuel Pineda; Aida Ormazabal; Ester López-Gallardo; Andres Nascimento; Abelardo Solano; MARÍA DOLORES HERRERO MARTÍN; Maria Antonia Vilaseca; Paz Briones; Lourdes Ibáñez; Julio Montoya; Rafael Artuch
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.
Annals of neurology 2006;59(2):394-8.
2005: Sara Pich; Daniel Bach; Paz Briones; Marc Liesa; Marta Camps; Xavier Testar; Manuel Palacín; Antonio Zorzano
The Charcot-Marie-Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system.
Human molecular genetics 2005;14(11):1405-15.
2005: Miguel A Martín; Alberto Blázquez; Luis G Gutierrez-Solana; Daniel Fernández-Moreira; Paz Briones; Antoni L Andreu; Rafael Garesse; Yolanda Campos; Joaquín Arenas
Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.
Archives of neurology 2005;62(4):659-61.
2005: Raquel Montero; Rafael Artuch; Paz Briones; A Nascimento; Angels García-Cazorla; Maria Antonia Vilaseca; Plácido Navas; Julio Montoya; J A Sánchez-Alcázar; Manuel Pineda
Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders.
BioFactors (Oxford, England) 2005;25(1-4):109-15.
2004: Manuel Pineda; Abelardo Solano; Rafael Artuch; Antoni L Andreu; Ana Playan; Maria Antonia Vilaseca; Jaume Colomer; Paz Briones; Jordi Casademont; Julio Montoya
Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA.
Pediatric research 2004;56(1):55-9.
2004: Maria Antonia Vilaseca; Rafael Artuch; Paz Briones
[Congenital disorders of glycosylation: state of the art and Spanish experience].
Medicina clínica 2004;122(18):707-16.
2004: Maria Teresa García-Silva; Gert Matthijs; Els Schollen; J C Cabrera; J Sanchez del Pozo; M Martí Herreros; Rogelio Simón; M Maties; E Martín Hernández; Thierry Hennet; Paz Briones
Congenital disorder of glycosylation (CDG) type Ie. A new patient.
Journal of inherited metabolic disease 2004;27(5):591-600.
2003: Cristina Ugalde; Ralf H Triepels; Marieke Coenen; Lambert P van den Heuvel; Roel Smeets; Johanna Uusimaa; Paz Briones; Jaume Campistol; Kari Majamaa; Jan A M Smeitink; Leo G J Nijtmans
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
Annals of neurology 2003;54(5):665-9.
2003: Suzan Wopereis; Stephanie Grünewald; Eva Morava; Johannes M Penzien; Paz Briones; Maria Teresa García-Silva; Pierre N M Demacker; Karin M L C Huijben; Ron A Wevers
Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
Clinical chemistry 2003;49(11):1839-45.
2003: Rafael Artuch; Imma Ferrer; Julia Pineda; Justo Moreno; Christiane Busquets; Paz Briones; Maria Antonia Vilaseca
Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.
Journal of neuroscience methods 2003;125(1-2):167-71.
2003: ML Girós; M D Bóveda; A Vázquez de la Cruz; P Lázaro; A Gata; A Solar Boga; Paz Briones
[Mutation P28T in gene GK1 as the cause of a familial galactokinase deficiency].
Archivos de la Sociedad Española de Oftalmología 2003;78(2):111-4.
2002: Paz Briones; Maria Antonia Vilaseca; Els Schollen; Imma Ferrer; M Maties; Christiane Busquets; Rafael Artuch; Laura Gort; M Marco; E van Schaftingen; G Matthijs; J Jaeken; Amparo Chabás
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Journal of inherited metabolic disease 2002;25(8):635-46.
2002: Wim J Kleijer; Victor H Garritsen; Michael Linnebank; P Mooyer; Jan G M Huijmans; A Mustonen; K O J Simola; M Arslan-Kirchner; R Battini; Paz Briones; E Cardo; H Mandel; E Tschiedel; R J A Wanders; H G Koch
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families.
Journal of inherited metabolic disease 2002;25(5):399-410.
2002: Michael Hunter; Evelyne Heyer; Frédéric Austerlitz; Dora Angelicheva; Vania Nedkova; Paz Briones; Anna Gata; Rosario de Pablo; Aranka László; Nils U Bosshard; Richard Gitzelmann; Attila Tordai; Lajos Kalmár; Csaba Szalai; Istvan Balogh; Contantin Lupu; Axinia Corches; Gabriela Popa; Anna Perez-Lezaun; Luba Kalaydjieva
The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe.
Pediatric research 2002;51(5):602-6.
2001: Maria Antonia Vilaseca; K Kobayashi; Paz Briones; N Lambruschini; J Campistol; A Tabata; A Alomar; M Rodès; M Lluch; T Saheki
Phenotype and genotype heterogeneity in Mediterranean citrullinemia.
Molecular genetics and metabolism 2001;74(3):396-8.
2001: Cristofol Vives-Bauza; Josep Gamez; Manuel Roig; Paz Briones; Carlos Cervera; Abelardo Solano; Julio Montoya; Antoni L Andreu
Exercise intolerance resulting from a muscle-restricted mutation in the mitochondrial tRNA(Leu (CUN)) gene.
Annals of medicine 2001;33(7):493-6.
2001: Paz Briones; ML Girós; V Martinez
Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutation.
Journal of inherited metabolic disease 2001;24(1):79-80.
2001: Paz Briones; M A Vilaseca; Maria Teresa García-Silva; Manuel Pineda; Jaume Colomer; I Ferrer; JOSEP ARTIGAS; J Jaeken; Amparo Chabás
Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2001;5(3):127-31.
2000: L Coelho-Miranda; Ana Playan; Rafael Artuch; Maria Antonia Vilaseca; Jaume Colomer; Paz Briones; J Coll-Cantí; Joan Conill; Anna Sans; A López de Munain; Abelardo Solano; MJ Alcaine; Julio Montoya; Manuel Pineda
[Mitochondrial encephalomyelitis, lactic acidosis and cerebrovascular accidents (MELAS) in pediatric age with the A3243G mutation in the tRNALeu(UUR) gene of mitochondrial DNA].
Revista de neurologia 2000;31(9):804-11.
2000: Catrina Colomé; Imma Ferrer; Rafael Artuch; Maria Antonia Vilaseca; Manuel Pineda; Paz Briones
Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2000;38(10):965-9.
2000: Rafael Artuch; Catrina Colomé; Ana Playán; MJ Alcaine; Paz Briones; Julio Montoya; Maria Antonia Vilaseca; Manuel Pineda
Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases.
Clinical biochemistry 2000;33(6):481-5.
2000: Jaume Colomer; C Iturriaga; M Bestué; Rafael Artuch; Paz Briones; Julio Montoya; Maria Antonia Vilaseca; Manuel Pineda
[Aspects of neuropathy in mitochondrial diseases].
Revista de neurologia 2000;30(12):1117-21.
2000: Celia Pérez-Cerdá; Begoña Merinero; Pilar Rodríguez-Pombo; Belén Pérez; Lourdes R Desviat; S Muro; Eva Richard; María José García; J Gangoiti; Pedro Ruiz-Sala; P Sanz; Paz Briones; Antonia Ribes; Mercedes Martínez-Pardo; Jaume Campistol; M Pérez; R Lama; M L Murga; T Lema-Garrett; Alfonso Verdú; Magdalena Ugarte
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
European journal of human genetics : EJHG 2000;8(3):187-94.
1999: Markus Aebi; ari Helenius; B Schenk; R Barone; A Fiumara; Eric G Berger; Thierry Hennet; T Imbach; A Stutz; Cecilia Bjursell; A Uller; Jan Wahlström; Paz Briones; E Cardo; Peter Clayton; Bryan Winchester; V Cormier-Dalre; Pascale de Lonlay; Maryvonne Cuer; Thierry Dupré; Nathalie Seta; Tom J de Koning; Lambertus Dorland; F de Loos; L Kupers
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS.
Glycoconjugate journal 1999;16(11):669-71.
1999: S Muro; Celia Perez-Cerdá; P Roddríguez-Pombo; Belén Pérez; Paz Briones; Antonia Ribes; Magdalena Ugarte
Feasibility of DNA based methods for prenatal diagnosis and carrier detection of propionic acidaemia.
Journal of medical genetics 1999;36(5):412-4.
1999: Antonia Ribes; Paz Briones; Marga Rodés
[Advances in biochemistry in the understanding of neurometabolic disorders].
Revista de neurologia 1999;28(1):11-5.
1998: G Martínez; Antonia Ribes; Paz Briones; Marga Rodés; Antonio Baldellou; Manuel Pineda; C Rodrigo; Isabel Lorente; Maria Teresa García-Silva; Encarnació Riudor; P Jaraba; J Lopez-Casas; Antonio Nuñez-Roldan
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
Journal of inherited metabolic disease 1998;21(6):693-4.
1998: J M Ramos Fernández; gustavo lorenzo; JM Aparicio Meix; Paz Briones; J Fernández Toral; Mercedes Martínez-Pardo
[Menkes disease with normal cytochrome oxidase activity in fibroblasts: report of a case and an update].
Anales españoles de pediatría 1998;49(1):85-8.
1998: Antonia Ribes; Encarnació Riudor; Barbara Garavaglia; G Martinez; A Arranz; Federica Invernizzi; Paz Briones; Eleonora Lamantea; M Sentís; A Barceló; Manuel Roig
Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
European journal of pediatrics 1998;157(4):317-20.
1998: Rafael Artuch; C Pavía; Ana Playán; Maria Antonia Vilaseca; Jaume Colomer; Carme Valls; M Rissech; M A González; A Pou; Paz Briones; Julio Montoya; Manuel Pineda
Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome.
Hormone research 1998;50(2):99-104.
1998: Rafael Artuch; Manuel Pineda; Maria Antonia Vilaseca; Paz Briones; Antonia Ribes; Jaume Colomer; AM Vernet; Jaume Campistol
[Respiratory chain and pyruvate metabolism deficiencies in pediatric patients: evaluation of biochemical tests for selective screening].
Revista de neurologia 1998;26(149):38-42.
1997: G Martínez; G Jiménez-Sánchez; Priscille Divry; Christine Vianey-Saban; Encarnació Riudor; Marga Rodés; Paz Briones; Antonia Ribes
Plasma free fatty acids in mitochondrial fatty acid oxidation defects.
Clinica chimica acta; international journal of clinical chemistry 1997;267(2):143-54.
1997: M A García-Pérez; Consuelo Climent; Paz Briones; Maria Antonia Vilaseca; Marga Rodés; Vicente Rubio
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.
Journal of inherited metabolic disease 1997;20(6):769-77.
1997: Paz Briones; Maria Antonia Vilaseca; Antonia Ribes; AM Vernet; M Lluch; V Cusi; Anke Huckriede; E Agsteribbe
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60.
Journal of inherited metabolic disease 1997;20(4):569-77.
1996: M D Boleda; Paz Briones; Jaume Farrés; Linda Tyfield; R Pi
Experimental design: a useful tool for PCR Optimization.
BioTechniques 1996;21(1):134-40.
1996: R Pons; Manuel Roig; Encarnació Riudor; Antonia Ribes; Paz Briones; luis ortigosa; Antonio Baldellou; J Gil-Gibernau; M Olesti; C Navarro; R J Wanders
The clinical spectrum of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
Pediatric neurology 1996;14(3):236-43.
1996: Paz Briones; M J López; Linda De Meirleir; Antonia Ribes; Marga Rodés; C Martinez-Costa; M Peris; Willy Lissens
Leigh syndrome due to pyruvate dehydrogenase E1 alpha deficiency (point mutation R263G) in a Spanish boy.
Journal of inherited metabolic disease 1996;19(6):795-6.
1996: Willy Lissens; Linda De Meirleir; Sara Seneca; Chantal Benelli; Cécile Marsac; B T Poll-The; Paz Briones; W Ruitenbeek; O van Diggelen; D Chaigne; V Ramaekers; Inge Liebaers
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Human mutation 1996;7(1):46-51.
1995: Manuel Pineda; Jaume Campistol; Maria Antonia Vilaseca; Paz Briones; Antonia Ribes; T Temudo; Martí Pons; V Cusi; M O Rolland
An atypical French form of pyruvate carboxylase deficiency.
Brain & development 1995;17(4):276-9.
1995: M D Boleda; M L Girós; Paz Briones; A Sanchís; L Alvarez; S Balaguer; J B Holton
Severe neonatal galactose-dependent disease with low-normal epimerase activity.
Journal of inherited metabolic disease 1995;18(1):88-9.
1995: Anke Huckriede; Astrid Heikema; K Sjollema; Paz Briones; E Agsteribbe
Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients. Effects of stress conditions.
Virchows Archiv : an international journal of pathology 1995;427(2):159-65.
1995: Paz Briones; Barbara Garavaglia; Antonia Ribes; M E Yoldi; Marga Rodés; C Romero; F García-Bragado
Clinical and biochemical findings in a Spanish boy with primary carnitine deficiency.
Journal of inherited metabolic disease 1995;18(2):237-40.
1995: Maria Antonia Vilaseca; J A Camacho; Paz Briones; C Farré; A Mas
Biochemical follow-up in late-treated nephropathic cystinosis.
Journal of inherited metabolic disease 1995;18(2):147-50.
1994: Maria Teresa García-Silva; Yolanda Campos; Antonia Ribes; Paz Briones; A Cabello; J Santos Borbujo; Joaquín Arenas; Barbara Garavaglia
Encephalopathy, petechiae, and acrocyanosis with ethylmalonic aciduria associated with muscle cytochrome c oxidase deficiency.
The Journal of pediatrics 1994;125(5 Pt 1):843-4.
1993: Maria Antonia Vilaseca; Paz Briones; I Ferrer; Jaume Campistol; A Riverola; P Castillo; F Ramon
Controlled diet in phenylketonuria may cause serum carnitine deficiency.
Journal of inherited metabolic disease 1993;16(1):101-4.
1992: M I Tejada; A Uribarren; Paz Briones; Maria Antonia Vilaseca
A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)
Prenatal diagnosis 1992;12(6):529-34.
1992: Antonia Ribes; Encarnació Riudor; Paz Briones; E Christensen; Jaume Campistol; D S Millington
Significance of bound glutarate in the diagnosis of glutaric aciduria type I.
Journal of inherited metabolic disease 1992;15(3):367-70.
1991: A Pou Serradell; J Corominas; Maria Antonia Vilaseca; Paz Briones
[Mitochondrial myopathy and leukoencephalopathy in twins of different sexes].
Revue neurologique 1991;147(6-7):497-500.
1991: Maria Antonia Vilaseca; Paz Briones; Antonia Ribes; E Carreras; A Llácer; J Querol
Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase.
Journal of inherited metabolic disease 1991;14(3):285-8.
1990: Antonia Ribes; Paz Briones; Maria Antonia Vilaseca; M Lluch; M Rodes; A Maya; Jaume Campistol; P Pascual; Terttu Suormala; R Baumgartner
Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.
European journal of pediatrics 1990;149(6):412-5.
1990: Antonia Ribes; Paz Briones; Maria Antonia Vilaseca; R Baraibar; J M Gairi
Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
Journal of inherited metabolic disease 1990;13(5):752-3.
1989: Encarnació Riudor; Maria Antonia Vilaseca; Paz Briones; Antonia Ribes; J Suñé; R Martorell; Alfons Macaya; Manuel Roig; A Ballabriga
Requirement of high biotin doses in a case of biotinidase deficiency.
Journal of inherited metabolic disease 1989;12(3):338-9.
1989: Paz Briones; Antonia Ribes; Maria Antonia Vilaseca; G Rodríguez-Valcárcel; L P Thuy; L Sweetman
A new case of holocarboxylase synthetase deficiency.
Journal of inherited metabolic disease 1989;12(3):329-30.
1984: Antonia Ribes; Maria Antonia Vilaseca; Paz Briones; A Maya; J Sabater; P Pascual; L Alvarez; J Ros; E Gonzalez Pascual
Methylmalonic aciduria with homocystinuria.
Journal of inherited metabolic disease 1984;7 Suppl 2():129-30.
1980: A Chabás; Paz Briones; J Sabater
Prenatal human brain development. II. Studies on malate dehydrogenase.
Developmental neuroscience 1980;3(1):19-27.