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Results: 1-25 | 26-32
Results: 1-25/32
METHYLMALONIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - PSYCHOMOTOR DELAY AND METHYLMALONIC ACIDURIA WITHOUT METABOLIC DECOMPENSATION
Authors: ROE CR STRUYS E KOK RM ROE DS HARRIS RA JAKOBS C
Citation: Cr. Roe et al., METHYLMALONIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY - PSYCHOMOTOR DELAY AND METHYLMALONIC ACIDURIA WITHOUT METABOLIC DECOMPENSATION, Molecular genetics and metabolism ( Molecular genetics and metabolism (Print)), 65(1), 1998, pp. 35-43
A NOVEL MUTATION IDENTIFIED IN CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY
Authors: YANG BZ DING JH ROE D DEWESE T DAY DW ROE CR
Citation: Bz. Yang et al., A NOVEL MUTATION IDENTIFIED IN CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 63(2), 1998, pp. 110-115
STUDIES ON THE OXIDATION OF PHYTANIC ACID AND PRISTANIC ACID IN HUMANFIBROBLASTS BY ACYLCARNITINE ANALYSIS
Authors: VERHOEVEN NM JAKOBS C TENBRINK HJ WANDERS RJA ROE CR
Citation: Nm. Verhoeven et al., STUDIES ON THE OXIDATION OF PHYTANIC ACID AND PRISTANIC ACID IN HUMANFIBROBLASTS BY ACYLCARNITINE ANALYSIS, Journal of inherited metabolic disease, 21(7), 1998, pp. 753-760
PHYTANIC ACID AND PRISTANIC ACID ARE OXIDIZED BY SEQUENTIAL PEROXISOMAL AND MITOCHONDRIAL REACTIONS IN CULTURED FIBROBLASTS
Authors: VERHOEVEN NM ROE DS KOK RM WANDERS RJA JAKOBS C ROE CR
Citation: Nm. Verhoeven et al., PHYTANIC ACID AND PRISTANIC ACID ARE OXIDIZED BY SEQUENTIAL PEROXISOMAL AND MITOCHONDRIAL REACTIONS IN CULTURED FIBROBLASTS, Journal of lipid research, 39(1), 1998, pp. 66-74
PRISTANIC ACID BETA-OXIDATION IN PEROXISOMAL DISORDERS - STUDIES IN CULTURED HUMAN FIBROBLASTS
Authors: VERHOEVEN NM SCHOR DSM ROE CR WANDERS RJA JAKOBS C
Citation: Nm. Verhoeven et al., PRISTANIC ACID BETA-OXIDATION IN PEROXISOMAL DISORDERS - STUDIES IN CULTURED HUMAN FIBROBLASTS, Biochimica et biophysica acta, L. Lipids and lipid metabolism, 1391(3), 1998, pp. 351-356
PHYTANIC ACID ALPHA-OXIDATION IN PEROXISOMAL DISORDERS - STUDIES IN CULTURED HUMAN FIBROBLASTS
Authors: VERHOEVEN NM SCHOR DSM ROE CR WANDERS RJA JAKOBS C
Citation: Nm. Verhoeven et al., PHYTANIC ACID ALPHA-OXIDATION IN PEROXISOMAL DISORDERS - STUDIES IN CULTURED HUMAN FIBROBLASTS, Biochimica et biophysica acta. Molecular basis of disease, 1361(3), 1997, pp. 281-286
SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN A 16-YEAR-OLD GIRL WITH SEVERE MUSCLE WASTING AND SCOLIOSIS
Authors: BAERLOCHER KE STEINMANN B AGUZZI A KRAHENBUHL S ROE CR VIANEYSABAN C
Citation: Ke. Baerlocher et al., SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN A 16-YEAR-OLD GIRL WITH SEVERE MUSCLE WASTING AND SCOLIOSIS, Journal of inherited metabolic disease, 20(3), 1997, pp. 427-431
LONG-CHAIN 3-HYDROXYACYL-COG DEHYDROGENASE-DEFICIENCY (LCHAD) IN ASSOCIATION WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY (AFLP) - A CASE-REPORT AND CONSIDERATIONS FOR NEONATAL AND PRENATAL-DIAGNOSIS
Authors: ALECK KA HARRISON HH PARTAP A SHUB MD MILLER RA BENFORD SA TEDESCO TA ROE CR
Citation: Ka. Aleck et al., LONG-CHAIN 3-HYDROXYACYL-COG DEHYDROGENASE-DEFICIENCY (LCHAD) IN ASSOCIATION WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY (AFLP) - A CASE-REPORT AND CONSIDERATIONS FOR NEONATAL AND PRENATAL-DIAGNOSIS, Clinical chemistry, 43, 1997, pp. 443-443
AN EXPANDING SPECTRUM OF METABOLIC DISORDERS CAN CAUSE ACUTE FATTY LIVER OF PREGNANCY (AFLP), HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME (HELLP), AND HYPEREMESIS GRAVIDARUM
Authors: INNES AM SEARGEANT LE BALACHANDRA K ROE CR WANDERS RJA APPLEGARTH D CASIRO O GREWAR D FRIESEN F GREENBERG CR
Citation: Am. Innes et al., AN EXPANDING SPECTRUM OF METABOLIC DISORDERS CAN CAUSE ACUTE FATTY LIVER OF PREGNANCY (AFLP), HEMOLYSIS, ELEVATED LIVER-ENZYMES AND LOW PLATELETS SYNDROME (HELLP), AND HYPEREMESIS GRAVIDARUM, American journal of human genetics, 61(4), 1997, pp. 1467-1467
IMPROVED DETECTION OF THE G1528C MUTATION IN LCHAD DEFICIENCY
Authors: DING JH YANG BZ NADA MA ROE CR
Citation: Jh. Ding et al., IMPROVED DETECTION OF THE G1528C MUTATION IN LCHAD DEFICIENCY, Biochemical and molecular medicine, 58(1), 1996, pp. 46-51
VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - SUCCESSFUL TREATMENT OF ACUTE CARDIOMYOPATHY
Authors: BROWNHARRISON MC NADA MA SPRECHER H VIANEYSABAN C FARQUHAR J GILLADOGA AC ROE CR
Citation: Mc. Brownharrison et al., VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - SUCCESSFUL TREATMENT OF ACUTE CARDIOMYOPATHY, Biochemical and molecular medicine, 58(1), 1996, pp. 59-65
CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE (VOL 5, PG 461, 1996)
Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSON N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE (VOL 5, PG 461, 1996), Human molecular genetics, 5(9), 1996, pp. 1390-1390
CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE
Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSEN N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE, Human molecular genetics, 5(4), 1996, pp. 461-472
THE GENES FOR THE ALPHA-SUBUNIT AND BETA-SUBUNIT OF THE MITOCHONDRIALTRIFUNCTIONAL PROTEIN ARE BOTH LOCATED IN THE SAME REGION OF HUMAN-CHROMOSOME 2P23
Authors: YANG BZ HENG HHQ DING JH ROE CR
Citation: Bz. Yang et al., THE GENES FOR THE ALPHA-SUBUNIT AND BETA-SUBUNIT OF THE MITOCHONDRIALTRIFUNCTIONAL PROTEIN ARE BOTH LOCATED IN THE SAME REGION OF HUMAN-CHROMOSOME 2P23, Genomics, 37(1), 1996, pp. 141-143
PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
Authors: NADA MA VIANEYSABAN C ROE CR DING JH MATHIEU M WAPPNER RS BIALER MG MCGLYNN JA MANDON G
Citation: Ma. Nada et al., PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Prenatal diagnosis, 16(2), 1996, pp. 117-124
THE MUTATIONAL SPECTRUM IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: ANDRESEN BS VIANEYSABAN C BROSS P DIVRY P ROE CR NADA MA KNUDSEN I GREGERSEN N
Citation: Bs. Andresen et al., THE MUTATIONAL SPECTRUM IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 169-172
RETROSPECTIVE DIAGNOSIS OF CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY BY ACYLCARNITINE ANALYSIS IN THE PROBAND GUTHRIE CARD AND ENZYMATIC STUDIES IN THE PARENTS
Authors: BRIVET M SLAMA A MILLINGTON DS ROE CR DEMAUGRE F LEGRAND A BOUTRON A POGGI F SAUDUBRAY JM
Citation: M. Brivet et al., RETROSPECTIVE DIAGNOSIS OF CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY BY ACYLCARNITINE ANALYSIS IN THE PROBAND GUTHRIE CARD AND ENZYMATIC STUDIES IN THE PARENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 181-184
DIAGNOSIS AND TREATMENT OF VERY-LONG-CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY
Authors: DAMORE MB ROE CR GOLDBERG T NADA MA VLANEYSABAN C SLONIM AE
Citation: Mb. Damore et al., DIAGNOSIS AND TREATMENT OF VERY-LONG-CHAIN ACYL COA DEHYDROGENASE-DEFICIENCY, Pediatric research, 39(4), 1996, pp. 846-846
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - THE MAJOR DISEASE-CAUSING MUTATION AND DIAGNOSIS
Authors: DING JH YANG BZ NADA MA ROE CR
Citation: Jh. Ding et al., LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - THE MAJOR DISEASE-CAUSING MUTATION AND DIAGNOSIS, Pediatric research, 39(4), 1996, pp. 851-851
FAMILIAL INFANTILE APNEA AND IMMATURE BETA-OXIDATION
Authors: IAFOLLA AK BROWNING IB ROE CR
Citation: Ak. Iafolla et al., FAMILIAL INFANTILE APNEA AND IMMATURE BETA-OXIDATION, Pediatric pulmonology, 20(3), 1995, pp. 167-171
INVESTIGATION OF BETA-OXIDATION INTERMEDIATES IN NORMAL AND MCAD-DEFICIENT HUMAN FIBROBLASTS USING TANDEM MASS-SPECTROMETRY
Authors: NADA MA CHACE DH SPRECHER H ROE CR
Citation: Ma. Nada et al., INVESTIGATION OF BETA-OXIDATION INTERMEDIATES IN NORMAL AND MCAD-DEFICIENT HUMAN FIBROBLASTS USING TANDEM MASS-SPECTROMETRY, Biochemical and molecular medicine, 54(1), 1995, pp. 59-66
CARBITINE DEFICIENCY IN APNEA OF PREMATURITY
Authors: IAFOLLA AK ROE CR
Citation: Ak. Iafolla et Cr. Roe, CARBITINE DEFICIENCY IN APNEA OF PREMATURITY, Pediatric research, 37(4), 1995, pp. 309-309
EVIDENCE FOR INTERMEDIATE CHANNELING IN MITOCHONDRIAL BETA-OXIDATION
Authors: NADA MA RHEAD WJ SPRECHER H SCHULZ H ROE CR
Citation: Ma. Nada et al., EVIDENCE FOR INTERMEDIATE CHANNELING IN MITOCHONDRIAL BETA-OXIDATION, The Journal of biological chemistry, 270(2), 1995, pp. 530-535
RAPID DIAGNOSIS OF MAPLE-SYRUP-URINE-DISEASE IN BLOOD SPOTS FROM NEWBORNS BY TANDEM MASS-SPECTROMETRY
Authors: CHACE DH HILLMAN SL MILLINGTON DS KAHLER SG ROE CR NAYLOR EW
Citation: Dh. Chace et al., RAPID DIAGNOSIS OF MAPLE-SYRUP-URINE-DISEASE IN BLOOD SPOTS FROM NEWBORNS BY TANDEM MASS-SPECTROMETRY, Clinical chemistry, 41(1), 1995, pp. 62-68
PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY
Authors: BIALER MG NADA MA VIANEYSABAN C ROE CR MATHIEU M MCGLYNN JA DING JH MANDON G SLONIM AE
Citation: Mg. Bialer et al., PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1600-1600
Risultati: 1-25 | 26-32