Results: 1-17 |
Results: 17

Authors: RIBES A RIUDOR E GARAVAGLIA B MARTINEZ G ARRANZ A INVERNIZZI F BRIONES P LAMANTEA E SENTIS M BARCELO A ROIG M
Citation: A. Ribes et al., MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, European journal of pediatrics, 157(4), 1998, pp. 317-320

Authors: ARTUCH R PAVIA C PLAYAN A VILASECA MA COLOMER J VALLS C RISSECH M GONZALEZ MA POU A BRIONES P MONTOYA J PINEDA M
Citation: R. Artuch et al., MULTIPLE ENDOCRINE INVOLVEMENT IN 2 PEDIATRIC-PATIENTS WITH KEARNS-SAYRE-SYNDROME, Hormone research, 50(2), 1998, pp. 99-104

Authors: MARTINEZ G RIBES A BRIONES P RODES M BALDELLOU A PINEDA M RODRIGO C LORENTE I GARCIASILVA MT RIUDOR E JARABA P LOPEZCASAS J NUNEZROLDAN A
Citation: G. Martinez et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN SPAIN, Journal of inherited metabolic disease, 21(6), 1998, pp. 693-694

Authors: GARCIAPEREZ MA CLIMENT C BRIONES P VILASECA MA RODES M RUBIO V
Citation: Ma. Garciaperez et al., 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, 20(6), 1997, pp. 769-777

Authors: BRIONES P VILASECA MA RIBES A VERNET A LLUCH M CUSI V HUCKRIEDE A AGSTERIBBE E
Citation: P. Briones et al., A NEW CASE OF MULTIPLE MITOCHONDRIAL ENZYME DEFICIENCIES WITH DECREASED AMOUNT OF HEAT-SHOCK-PROTEIN-60, Journal of inherited metabolic disease, 20(4), 1997, pp. 569-577

Authors: MARTINEZ G JIMENEZSANCHEZ G DIVRY P VIANEYSABAN C RIUDOR E RODES M BRIONES P RIBES A
Citation: G. Martinez et al., PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Clinica chimica acta, 267(2), 1997, pp. 143-154

Authors: LISSENS W DEMEIRLEIR L SENECA S BENELLI C MARSAC C POLLTHE BT BRIONES P RUITENBEEK W VANDIGGELEN O CHAIGNE D RAMAEKERS V LIEBAERS I
Citation: W. Lissens et al., MUTATION ANALYSIS OF THE PYRUVATE-DEHYDROGENASE E(1)ALPHA GENE IN 8 PATIENTS WITH A PYRUVATE-DEHYDROGENASE COMPLEX DEFICIENCY, Human mutation, 7(1), 1996, pp. 46-51

Authors: PONS R ROIG M RIUDOR E RIBES A BRIONES P ORTIGOSA L BALDELLOU A GILGIBERNAU J OLESTI M NAVARRO C WANDERS RJA
Citation: R. Pons et al., THE CLINICAL SPECTRUM OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Pediatric neurology, 14(3), 1996, pp. 236-243

Authors: BOLEDA MD BRIONES P FARRES J TYFIELD L PI R
Citation: Md. Boleda et al., EXPERIMENTAL-DESIGN - A USEFUL TOOL FOR PCR OPTIMIZATION, BioTechniques, 21(1), 1996, pp. 134-140

Authors: BRIONES P LOPEZ MJ DEMEIRLEIR L RIBES A RODES M MARTINEZCOSTA C PERIS M LISSENS W
Citation: P. Briones et al., LEIGH-SYNDROME DUE TO PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY (POINT MUTATION R263G) IN A SPANISH BOY, Journal of inherited metabolic disease, 19(6), 1996, pp. 795-796

Authors: HUCKRIEDE A HEIKEMA A SJOLLEMA K BRIONES P AGSTERIBBE E
Citation: A. Huckriede et al., MORPHOLOGY OF THE MITOCHONDRIA IN HEAT-SHOCK-PROTEIN-60 DEFICIENT FIBROBLASTS FROM MITOCHONDRIAL MYOPATHY PATIENTS - EFFECTS OF STRESS CONDITIONS, Virchows Archiv, 427(2), 1995, pp. 159-165

Authors: PINEDA M CAMPISTOL J VILASECA MA BRIONES P RIBES A TEMUDO T PONS M CUSI V ROLLAND MO
Citation: M. Pineda et al., AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Brain & development, 17(4), 1995, pp. 276-279

Authors: GARCIAPEREZ MA SANJURJO P BRIONES P GARCIAMUNOZ MJ RUBIO V
Citation: Ma. Garciaperez et al., A SPLICING MUTATION, A NONSENSE MUTATION (Y167X) AND 2 MISSENSE MUTATIONS (I159T AND A209V) IN SPANISH PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Human genetics, 96(5), 1995, pp. 549-551

Authors: VILASECA MA CAMACHO JA BRIONES P FARRE C MAS A
Citation: Ma. Vilaseca et al., BIOCHEMICAL FOLLOW-UP IN LATE-TREATED NEPHROPATHIC CYSTINOSIS, Journal of inherited metabolic disease, 18(2), 1995, pp. 147-150

Authors: BRIONES P GARAVAGLIA B RIBES A YOLDI ME RODES M ROMERO C GARCIABRAGADO F
Citation: P. Briones et al., CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 237-240

Authors: BOLEDA MD GIROS ML BRIONES P SANCHIS A ALVAREZ L BALAGUER S HOLTON JB
Citation: Md. Boleda et al., SEVERE NEONATAL GALACTOSE-DEPENDENT DISEASE WITH LOW-NORMAL EPIMERASEACTIVITY, Journal of inherited metabolic disease, 18(1), 1995, pp. 88-89

Authors: GARCIASILVA MT CAMPOS Y RIBES A BRIONES P CABELLO A BORBUJO JS ARENAS J GARAVAGLIA B
Citation: Mt. Garciasilva et al., ENCEPHALOPATHY, PETECHIAE AND ACROCYANOSIS WITH ETHYLMALONIC ACIDURIAASSOCIATED WITH MUSCLE CYTOCHROME-C-OXIDASE DEFICIENCY, The Journal of pediatrics, 125(5), 1994, pp. 843-843
Risultati: 1-17 |