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Results: 1-25 | 26-34
Results: 1-25/34
A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE- AN ADDITIONAL RISK FACTOR FOR NEURAL-TUBE DEFECTS
Authors: VANDERPUT NMJ GABREELS F STEVENS EMB SMEITINK JAM TRIJBELS FJM ESKES TKAB VANDENHEUVEL LP BLOM HJ
Citation: Nmj. Vanderput et al., A 2ND COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE- AN ADDITIONAL RISK FACTOR FOR NEURAL-TUBE DEFECTS, American journal of human genetics, 62(5), 1998, pp. 1044-1051
IDENTIFICATION OF 4 NOVEL MUTATIONS IN SEVERE METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY
Authors: KLUIJTMANS LAJ WENDEL U STEVENS EMB VANDENHEUVEL LPWJ TRIJBELS FJM BLOM HJ
Citation: Laj. Kluijtmans et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN SEVERE METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, European journal of human genetics, 6(3), 1998, pp. 257-265
MOLECULAR-GENETIC ANALYSIS OF THE GENE ENCODING THE TRIFUNCTIONAL ENZYME MTHFD (METHYLENETETRAHYDROFOLATE-DEHYDROGENASE METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE, FORMYLTETRAHYDROFOLATE SYNTHETASE) IN PATIENTS WITH NEURAL-TUBE DEFECTS
Authors: HOL FA VANDERPUT NMJ GEURDS MPA HEIL SG TRIJBELS FJM HAMEL BCJ MARIMAN ECM BLOM HJ
Citation: Fa. Hol et al., MOLECULAR-GENETIC ANALYSIS OF THE GENE ENCODING THE TRIFUNCTIONAL ENZYME MTHFD (METHYLENETETRAHYDROFOLATE-DEHYDROGENASE METHENYLTETRAHYDROFOLATE-CYCLOHYDROLASE, FORMYLTETRAHYDROFOLATE SYNTHETASE) IN PATIENTS WITH NEURAL-TUBE DEFECTS, Clinical genetics, 53(2), 1998, pp. 119-125
MOLECULAR BEACONS - A NEW APPROACH FOR SEMIAUTOMATED MUTATION ANALYSIS
Authors: GIESENDORF BAJ VET JAM TYAGI S MENSINK EJMG TRIJBELS FJM BLOM HJ
Citation: Baj. Giesendorf et al., MOLECULAR BEACONS - A NEW APPROACH FOR SEMIAUTOMATED MUTATION ANALYSIS, Clinical chemistry, 44(3), 1998, pp. 482-486
HOMOZYGOUS CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, COMBINED WITH FACTOR-V-LEIDEN OR THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN THERISK OF VENOUS THROMBOSIS
Authors: KLUIJTMANS LAJ BOERS GHJ VERBRUGGEN B TRIJBELS FJM NOVAKOVA IRO BLOM HJ
Citation: Laj. Kluijtmans et al., HOMOZYGOUS CYSTATHIONINE BETA-SYNTHASE DEFICIENCY, COMBINED WITH FACTOR-V-LEIDEN OR THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN THERISK OF VENOUS THROMBOSIS, Blood, 91(6), 1998, pp. 2015-2018
ALTERED FOLATE AND VITAMIN-B-12 METABOLISM IN FAMILIES WITH SPINA-BIFIDA OFFSPRING
Authors: VANDERPUT NMJ THOMAS CMG ESKES TKAB TRIJBELS FJM STEEGERSTHEUNISSEN RPM MARIMAN ECM DEGRAAFHESS A SMEITINK JAM BLOM HJ
Citation: Nmj. Vanderput et al., ALTERED FOLATE AND VITAMIN-B-12 METABOLISM IN FAMILIES WITH SPINA-BIFIDA OFFSPRING, Quarterly Journal of Medicine, 90(8), 1997, pp. 505-510
A COMMON 844INS68 INSERTION VARIANT IN THE CYSTATHIONINE BETA-SYNTHASE GENE
Authors: KLUIJTMANS LAJ BOERS GHJ TRIJBELS FJM VANLITHZANDERS HMA VANDENHEUVEL LPWJ BLOM HJ
Citation: Laj. Kluijtmans et al., A COMMON 844INS68 INSERTION VARIANT IN THE CYSTATHIONINE BETA-SYNTHASE GENE, Biochemical and molecular medicine, 62(1), 1997, pp. 23-25
DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING (VOL 74, PG 691, 1996)
Authors: VANDERPUT NMJ VANDENHEUVEL LP STEEGERSTHEUNISSEN RPM TRIJBELS FJM ESKES TKAB MARIMAN ECM DENHEYER M BLOM HJ
Citation: Nmj. Vanderput et al., DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING (VOL 74, PG 691, 1996), Journal of molecular medicine, 75(1), 1997, pp. 69-69
RAPID AND RELIABLE MEASUREMENT OF HIGHLY ELEVATED BLOOD AMMONIA CONCENTRATIONS IN CHILDREN
Authors: DEKEIJZER MH JAKOBS BS BRANDTS RW HOFS MTW TRIJBELS FJM SMEITINK JAM
Citation: Mh. Dekeijzer et al., RAPID AND RELIABLE MEASUREMENT OF HIGHLY ELEVATED BLOOD AMMONIA CONCENTRATIONS IN CHILDREN, European journal of clinical chemistry and clinical biochemistry, 35(11), 1997, pp. 853-854
DEFECTS IN THE MITOCHONDRIAL ENERGY-METABOLISM OUTSIDE THE RESPIRATORY-CHAIN AND THE PYRUVATE-DEHYDROGENASE COMPLEX
Authors: TRIJBELS FJM RUITENBEEK W HUIZING M WENDEL U SMEITINK JAM SENGERS RCA
Citation: Fjm. Trijbels et al., DEFECTS IN THE MITOCHONDRIAL ENERGY-METABOLISM OUTSIDE THE RESPIRATORY-CHAIN AND THE PYRUVATE-DEHYDROGENASE COMPLEX, Molecular and cellular biochemistry, 174(1-2), 1997, pp. 243-247
CHOLESTYRAMINE INFLUENCES MEAL-STIMULATED PANCREATICOBILIARY FUNCTIONAND PLASMA CHOLECYSTOKININ INDEPENDENT OF GASTRIC-EMPTYING AND FOOD DIGESTION
Authors: THIMISTER PWL HOPMAN WPM LOUALIDI A ROSENBUSCH G WILLEMS HL TRIJBELS FJM JANSEN JBMJ
Citation: Pwl. Thimister et al., CHOLESTYRAMINE INFLUENCES MEAL-STIMULATED PANCREATICOBILIARY FUNCTIONAND PLASMA CHOLECYSTOKININ INDEPENDENT OF GASTRIC-EMPTYING AND FOOD DIGESTION, Scandinavian journal of gastroenterology, 32(8), 1997, pp. 778-784
THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN CORONARY-ARTERY DISEASE
Authors: KLUIJTMANS LAJ KASTELEIN JJP LINDEMANS J BOERS GHJ HEIL SG BRUSCHKE AVG JUKEMA JW VANDENHEUVEL LPWJ TRIJBELS FJM BOERMA GJM VERHEUGT FWA WILLEMS F BLOM HJ
Citation: Laj. Kluijtmans et al., THERMOLABILE METHYLENETETRAHYDROFOLATE REDUCTASE IN CORONARY-ARTERY DISEASE, Circulation, 96(8), 1997, pp. 2573-2577
DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING
Authors: VANDERPUT NMJ VANDENHEUVEL LP STEEGERSTHEUNISSEN RPM TRIJBELS FJM ESKES TKAB MARIMAN ECM DENHEYER M BLOM HJ
Citation: Nmj. Vanderput et al., DECREASED METHYLENE TETRAHYDROFOLATE REDUCTASE-ACTIVITY DUE TO THE 677C-]T MUTATION IN FAMILIES WITH SPINA-BIFIDA OFFSPRING, Journal of molecular medicine, 74(11), 1996, pp. 691-694
THIAMINE (VITAMIN-B1) SUPPLEMENTATION DOES NOT REDUCES FASTING BLOOD HOMOCYSTEINE CONCENTRATION IN MOST HOMOZYGOTES FOR HOMOCYSTINURIA
Authors: FRANKEN DG BLOM HJ BOERS GHJ TANGERMAN A THOMAS CMG TRIJBELS FJM
Citation: Dg. Franken et al., THIAMINE (VITAMIN-B1) SUPPLEMENTATION DOES NOT REDUCES FASTING BLOOD HOMOCYSTEINE CONCENTRATION IN MOST HOMOZYGOTES FOR HOMOCYSTINURIA, Biochimica et biophysica acta. Molecular basis of disease, 1317(2), 1996, pp. 101-104
IMPORTANCE OF MITOCHONDRIAL TRANSMEMBRANE PROCESSES IN HUMAN MITOCHONDRIOPATHIES
Authors: HUIZING M DEPINTO V RUITENBEEK W TRIJBELS FJM VANDENHEUVEL LP WENDEL U
Citation: M. Huizing et al., IMPORTANCE OF MITOCHONDRIAL TRANSMEMBRANE PROCESSES IN HUMAN MITOCHONDRIOPATHIES, Journal of bioenergetics and biomembranes, 28(2), 1996, pp. 109-114
DEFICIENCY OF THE VOLTAGE-DEPENDENT ANION CHANNEL - A NOVEL CAUSE OF MITOCHONDRIOPATHY
Authors: HUIZING M RUITENBEEK W THINNES FP DEPINTO V WENDEL U TRIJBELS FJM SMIT LME TERLAAK HJ VANDENHEUVEL LP
Citation: M. Huizing et al., DEFICIENCY OF THE VOLTAGE-DEPENDENT ANION CHANNEL - A NOVEL CAUSE OF MITOCHONDRIOPATHY, Pediatric research, 39(5), 1996, pp. 760-765
DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT
Authors: KLUIJTMANS LAJ BOERS GHJ STEVENS EMB RENIER WO KRAUS JP TRIJBELS FJM VANDENHEUVEL LPWJ BLOM HJ
Citation: Laj. Kluijtmans et al., DEFECTIVE CYSTATHIONINE BETA-SYNTHASE REGULATION BY S-ADENOSYLMETHIONINE IN A PARTIALLY PYRIDOXINE RESPONSIVE HOMOCYSTINURIA PATIENT, The Journal of clinical investigation, 98(2), 1996, pp. 285-289
PREVALENCE OF FAMILIAL MILD HYPERHOMOCYSTEINEMIA
Authors: FRANKEN DG BOERS GHJ BLOM HJ CRUYSBERG JRM TRIJBELS FJM HAMEL BCJ
Citation: Dg. Franken et al., PREVALENCE OF FAMILIAL MILD HYPERHOMOCYSTEINEMIA, Atherosclerosis, 125(1), 1996, pp. 71-80
ROLE OF INTRADUODENAL PROTEASES IN PLASMA CHOLECYSTOKININ AND PANCREATICOBILIARY RESPONSES TO PROTEIN AND AMINO-ACIDS
Authors: THIMISTER PWL HOPMAN WPM SLOOTS CEJ ROSENBUSCH G WILLEMS HL TRIJBELS FJM JANSEN JBMJ
Citation: Pwl. Thimister et al., ROLE OF INTRADUODENAL PROTEASES IN PLASMA CHOLECYSTOKININ AND PANCREATICOBILIARY RESPONSES TO PROTEIN AND AMINO-ACIDS, Gastroenterology, 110(2), 1996, pp. 567-575
MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE
Authors: KLUIJTMANS LAJ VANDENHEUVEL LPWJ BOERS GHJ FROSST P STEVENS EMB VANOOST BA DENHEIJER M TRIJBELS FJM ROZEN R BLOM HJ
Citation: Laj. Kluijtmans et al., MOLECULAR-GENETIC ANALYSIS IN MILD HYPERHOMOCYSTEINEMIA - A COMMON MUTATION IN THE METHYLENETETRAHYDROFOLATE REDUCTASE GENE IS A GENETIC RISK FACTOR FOR CARDIOVASCULAR-DISEASE, American journal of human genetics, 58(1), 1996, pp. 35-41
2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS
Authors: KLUIJTMANS LAJ BLOM HJ BOERS GHJ VANOOST BA TRIJBELS FJM VANDENHEUVEL LPWJ
Citation: Laj. Kluijtmans et al., 2 NOVEL MISSENSE MUTATIONS IN THE CYSTATHIONINE BETA-SYNTHASE GENE INHOMOCYSTINURIC PATIENTS, Human genetics, 96(2), 1995, pp. 249-250
MUTATED METHYLENETETRAHYDROFOLATE REDUCTASE AS A RISK FACTOR FOR SPINA-BIFIDA
Authors: VANDERPUT NMJ STEEGERSTHEUNISSEN RPM FROSST P TRIJBELS FJM ESKES TKAB VANDENHEUVEL LP MARIMAN ECM DENHEYER M ROZEN R BLOM HJ
Citation: Nmj. Vanderput et al., MUTATED METHYLENETETRAHYDROFOLATE REDUCTASE AS A RISK FACTOR FOR SPINA-BIFIDA, Lancet, 346(8982), 1995, pp. 1070-1071
REVERSAL OF METHYLMERCAPTOPURINE RIBONUCLEOSIDE CYTOTOXICITY BY PURINE RIBONUCLEOSIDES AND ADENINE
Authors: STET EH DEABREU RA BOKKERINK JPM LAMBOOY LHJ VOGELSMENTINK TM KEIZERGARRITSEN JJ TRIJBELS FJM
Citation: Eh. Stet et al., REVERSAL OF METHYLMERCAPTOPURINE RIBONUCLEOSIDE CYTOTOXICITY BY PURINE RIBONUCLEOSIDES AND ADENINE, Biochemical pharmacology, 49(1), 1995, pp. 49-56
MULTIPLE DEFICIENCIES OF MITOCHONDRIAL DNA-ENCODED AND NUCLEAR-ENCODED SUBUNITS OF RESPIRATORY NADH DEHYDROGENASE DETECTED WITH PEPTIDE-SPECIFIC AND SUBUNIT-SPECIFIC ANTIBODIES IN MITOCHONDRIAL MYOPATHIES
Authors: BENTLAGE HACM JANSSEN AJM CHOMYN A ATTARDI G WALKER JE SCHAGGER H SENGERS RCA TRIJBELS FJM
Citation: Hacm. Bentlage et al., MULTIPLE DEFICIENCIES OF MITOCHONDRIAL DNA-ENCODED AND NUCLEAR-ENCODED SUBUNITS OF RESPIRATORY NADH DEHYDROGENASE DETECTED WITH PEPTIDE-SPECIFIC AND SUBUNIT-SPECIFIC ANTIBODIES IN MITOCHONDRIAL MYOPATHIES, Biochimica et biophysica acta. Biomembranes, 1234(1), 1995, pp. 63-73
THERMOLABILE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE AS A CAUSE OF MILD HYPERHOMOCYSTEINEMIA
Authors: ENGBERSEN AMT FRANKEN DG BOERS GHJ STEVENS EMB TRIJBELS FJM BLOM HJ
Citation: Amt. Engbersen et al., THERMOLABILE 5,10-METHYLENETETRAHYDROFOLATE REDUCTASE AS A CAUSE OF MILD HYPERHOMOCYSTEINEMIA, American journal of human genetics, 56(1), 1995, pp. 142-150
Risultati: 1-25 | 26-34