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Results: 1-15 |
Results: 15
POPULATION-GENETICS OF PKU IN PORTUGAL
Authors: RIVERA I LEANDRO P DEALMEIDA IT LECHNER MC
Citation: I. Rivera et al., POPULATION-GENETICS OF PKU IN PORTUGAL, European journal of human genetics, 6, 1998, pp. 3072-3072
LACTIC-ACIDOSIS IN LONG-CHAIN FATTY-ACID BETA-OXIDATION DISORDERS
Authors: VENTURA FV RUITER JPN IJLST L DEALMEIDA IT WANDERS RJA
Citation: Fv. Ventura et al., LACTIC-ACIDOSIS IN LONG-CHAIN FATTY-ACID BETA-OXIDATION DISORDERS, Journal of inherited metabolic disease, 21(6), 1998, pp. 645-654
THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: COSTA CG DORLAND L DEALMEIDA IT JAKOBS C DURAN M POLLTHE BT
Citation: Cg. Costa et al., THE EFFECT OF FASTING, LONG-CHAIN TRIGLYCERIDE LOAD AND CARNITINE LOAD ON PLASMA LONG-CHAIN ACYLCARNITINE LEVELS IN MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 21(4), 1998, pp. 391-399
POPULATION-GENETICS OF HYPERPHENYLALANINEMIA RESULTING FROM PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PORTUGAL
Authors: RIVERA I LEANDRO P LICHTERKONECKI U DEALMEIDA IT LECHNER MC
Citation: I. Rivera et al., POPULATION-GENETICS OF HYPERPHENYLALANINEMIA RESULTING FROM PHENYLALANINE-HYDROXYLASE DEFICIENCY IN PORTUGAL, Journal of Medical Genetics, 35(4), 1998, pp. 301-304
CARNITINE PALMITOYLTRANSFERASE-II SPECIFICITY TOWARDS BETA-OXIDATION INTERMEDIATES - EVIDENCE FOR A REVERSE CARNITINE CYCLE IN MITOCHONDRIA
Authors: VENTURA FV IJLST L RUITER J OFMAN R COSTA CG JAKOBS C DURAN M DEALMEIDA IT BIEBER LL WANDERS RJA
Citation: Fv. Ventura et al., CARNITINE PALMITOYLTRANSFERASE-II SPECIFICITY TOWARDS BETA-OXIDATION INTERMEDIATES - EVIDENCE FOR A REVERSE CARNITINE CYCLE IN MITOCHONDRIA, European journal of biochemistry, 253(3), 1998, pp. 614-618
SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS
Authors: COSTA CG DORLAND L HOLWERDA U DEALMEIDA IT POLLTHE BT JAKOBS C DURAN M
Citation: Cg. Costa et al., SIMULTANEOUS ANALYSIS OF PLASMA-FREE FATTY-ACIDS AND THEIR 3-HYDROXY ANALOGS IN FATTY-ACID BETA-OXIDATION DISORDERS, Clinical chemistry, 44(3), 1998, pp. 463-471
RELATIVE FREQUENCY OF IVS10NT546 MUTATION IN A PORTUGUESE PHENYLKETONURIC POPULATION
Authors: RIVERA I LEANDRO P LICHTERKONECKI U DEALMEIDA IT LECHNER MC
Citation: I. Rivera et al., RELATIVE FREQUENCY OF IVS10NT546 MUTATION IN A PORTUGUESE PHENYLKETONURIC POPULATION, Human mutation, 9(3), 1997, pp. 272-273
VALPROATE INHIBITS THE MITOCHONDRIAL PYRUVATE-DRIVEN OXIDATIVE-PHOSPHORYLATION IN-VITRO
Authors: SILVA MFB RUITER JPN IJLST L JAKOBS C DURAN M DEALMEIDA IT WANDERS RJA
Citation: Mfb. Silva et al., VALPROATE INHIBITS THE MITOCHONDRIAL PYRUVATE-DRIVEN OXIDATIVE-PHOSPHORYLATION IN-VITRO, Journal of inherited metabolic disease, 20(3), 1997, pp. 397-400
BROAD-SPECIFICITY OF CARNITINE PALMITOYLTRANSFERASE-II TOWARDS LONG-CHAIN ACYL-COA BETA-OXIDATION INTERMEDIATES AND ITS PRACTICAL APPROACH TO THE SYNTHESIS OF VARIOUS LONG-CHAIN ACYLCARNITINES
Authors: VENTURA FV COSTA CG IJLST L DORLAND L DURAN M JAKOBS C DEALMEIDA IT WANDERS RJA
Citation: Fv. Ventura et al., BROAD-SPECIFICITY OF CARNITINE PALMITOYLTRANSFERASE-II TOWARDS LONG-CHAIN ACYL-COA BETA-OXIDATION INTERMEDIATES AND ITS PRACTICAL APPROACH TO THE SYNTHESIS OF VARIOUS LONG-CHAIN ACYLCARNITINES, Journal of inherited metabolic disease, 20(3), 1997, pp. 423-426
QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY
Authors: COSTA CG STRUYS EA BOOTSMA A TENBRINK HJ DORLAND L DEALMEIDA IT DURAN M JAKOBS C
Citation: Cg. Costa et al., QUANTITATIVE-ANALYSIS OF PLASMA ACYLCARNITINES USING GAS-CHROMATOGRAPHY CHEMICAL-IONIZATION MASS FRAGMENTOGRAPHY, Journal of lipid research, 38(1), 1997, pp. 173-182
3-HYDROXYOCTANOIC, 6-HYDROXYOCTANOIC AND 7-HYDROXYOCTANOIC ACIDS ARE METABOLITES OF MEDIUM-CHAIN TRIGLYCERIDES AND EXCRETED IN URINE AS GLUCURONIDES
Authors: COSTA CCG DORLAND L KROON M DEALMEIDA IT JAKOBS C DURAN M
Citation: Ccg. Costa et al., 3-HYDROXYOCTANOIC, 6-HYDROXYOCTANOIC AND 7-HYDROXYOCTANOIC ACIDS ARE METABOLITES OF MEDIUM-CHAIN TRIGLYCERIDES AND EXCRETED IN URINE AS GLUCURONIDES, Journal of mass spectrometry., 31(6), 1996, pp. 633-638
MEDIUM-CHAIN TRIGLYCERIDE LOADING HAS NO DIAGNOSTIC POWER IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: COSTA CG DEALMEIDA IT JAKOBS C DURAN M POLLTHE BT
Citation: Cg. Costa et al., MEDIUM-CHAIN TRIGLYCERIDE LOADING HAS NO DIAGNOSTIC POWER IN LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(3), 1996, pp. 376-377
INHIBITORY EFFECT OF 3-HYDROXYACYL-COAS AND OTHER LONG-CHAIN FATTY-ACID BETA-OXIDATION INTERMEDIATES ON MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION
Authors: VENTURA FV RUITER JPN IJLST L DEALMEIDA IT WANDERS RJA
Citation: Fv. Ventura et al., INHIBITORY EFFECT OF 3-HYDROXYACYL-COAS AND OTHER LONG-CHAIN FATTY-ACID BETA-OXIDATION INTERMEDIATES ON MITOCHONDRIAL OXIDATIVE-PHOSPHORYLATION, Journal of inherited metabolic disease, 19(2), 1996, pp. 161-164
ORGANIC-ACID PROFILES RESEMBLING A BETA-OXIDATION DEFECT IN 2 PATIENTS WITH CELIAC-DISEASE
Authors: COSTA CG VERHOEVEN NM KNEEPKENS CMF DOUWES AC WANDERS RJA DEALMEIDA IT DURAN M JAKOBS C
Citation: Cg. Costa et al., ORGANIC-ACID PROFILES RESEMBLING A BETA-OXIDATION DEFECT IN 2 PATIENTS WITH CELIAC-DISEASE, Journal of inherited metabolic disease, 19(2), 1996, pp. 177-180
MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH AND CENTRAL PORTUGAL - PREVELANCE OF V388M MUTATION
Authors: LEANDRO P RIVERA I RIBEIRO V DEALMEIDA IT DASILVEIRA CL LECHNER MC
Citation: P. Leandro et al., MUTATION ANALYSIS OF PHENYLKETONURIA IN SOUTH AND CENTRAL PORTUGAL - PREVELANCE OF V388M MUTATION, Human mutation, 6(2), 1995, pp. 192-194
Risultati: 1-15 |