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
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
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
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
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
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
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
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
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
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
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
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
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