AAAAAA

   
Results: 1-7 |
Results: 7
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN SPAIN
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
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
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
PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
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
LEIGH-SYNDROME DUE TO PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY (POINT MUTATION R263G) IN A SPANISH BOY
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
CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY
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
MOLYBDENUM COFACTOR DEFICIENCY ASSOCIATED WITH DANDY-WALKER MALFORMATION
Authors: PINTOSMORELL G NARANJO MA ARTIGAS M ROGE M RODES M COLL MJ JOHNSON JL RAJAGOPALAN KV
Citation: G. Pintosmorell et al., MOLYBDENUM COFACTOR DEFICIENCY ASSOCIATED WITH DANDY-WALKER MALFORMATION, Journal of inherited metabolic disease, 18(1), 1995, pp. 86-87
HYPERAMMONIEMIC COMA IN PATIENT AFFECTED BY ORNITHINE-TRANSCARBAMYLASE DEFICIENCY
Authors: NIGRO F FIUMARA A BARONE R CATALANO F RODES M
Citation: F. Nigro et al., HYPERAMMONIEMIC COMA IN PATIENT AFFECTED BY ORNITHINE-TRANSCARBAMYLASE DEFICIENCY, Rivista italiana di pediatria, 20(2), 1994, pp. 168-171
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