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Results: 1-22 |
Results: 22
MONOAMINE-OXIDASE-A DEFICIENCY - BIOGENIC-AMINE METABOLITES IN RANDOMURINE SAMPLES
Authors: ABELING NGGM VANGENNIP AH VANCRUCHTEN AG OVERMARS H BRUNNER HG
Citation: Nggm. Abeling et al., MONOAMINE-OXIDASE-A DEFICIENCY - BIOGENIC-AMINE METABOLITES IN RANDOMURINE SAMPLES, Journal of neural transmission. Supplementum, (52), 1998, pp. 9-15
IDENTIFICATION OF A BRITISH COHORT OF PATIENTS WITH A PHENOTYPE SIMILAR TO THAT FOUND TO BE ASSOCIATED WITH A PREMATURE STOP CODON IN THE MONOAMINE-OXIDASE-A (MAOA) GENE
Authors: STAMPS R GURLING HMD ABELING NGGM
Citation: R. Stamps et al., IDENTIFICATION OF A BRITISH COHORT OF PATIENTS WITH A PHENOTYPE SIMILAR TO THAT FOUND TO BE ASSOCIATED WITH A PREMATURE STOP CODON IN THE MONOAMINE-OXIDASE-A (MAOA) GENE, American journal of medical genetics, 81(6), 1998, pp. 467-468
AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS
Authors: ABELING NGGM VANGENNIP AH BARTH PG VANCRUCHTEN A WESTRA M WIJBURG FA
Citation: Nggm. Abeling et al., AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY - A NEW CASE WITH A MILD CLINICAL PRESENTATION AND UNEXPECTED LABORATORY FINDINGS, Journal of inherited metabolic disease, 21(3), 1998, pp. 240-242
IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME
Authors: BOSCH AM SMITT JHS VANGENNIP AH ABELING NGGM SCHUTGENS RBH BAKKER HD WIJBURG FA
Citation: Am. Bosch et al., IATROGENIC ISOLATED ISOLEUCINE DEFICIENCY AS THE CAUSE OF AN ACRODERMATITIS ENTEROPATHICA-LIKE SYNDROME, British journal of dermatology, 139(3), 1998, pp. 488-491
H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN PATIENTS WITH INBORN-ERRORS OFPURINE AND PYRIMIDINE METABOLISM
Authors: WEVERS RA ENGELKE U ROTTEVEEL JJ HEERSCHAP A DEJONG JGN ABELING NGGM VANGENNIP AH DEABREU RA
Citation: Ra. Wevers et al., H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN PATIENTS WITH INBORN-ERRORS OFPURINE AND PYRIMIDINE METABOLISM, Journal of inherited metabolic disease, 20(3), 1997, pp. 345-350
INHIBITION OF BETA-UREIDOPROPIONASE BY PROPIONATE MAY CONTRIBUTE TO THE NEUROLOGICAL COMPLICATIONS IN PATIENTS WITH PROPIONIC ACIDEMIA
Authors: VANGENNIP AH VANLENTHE H ABELING NGGM SCHOLTEN EG VANKUILENBURG ABP
Citation: Ah. Vangennip et al., INHIBITION OF BETA-UREIDOPROPIONASE BY PROPIONATE MAY CONTRIBUTE TO THE NEUROLOGICAL COMPLICATIONS IN PATIENTS WITH PROPIONIC ACIDEMIA, Journal of inherited metabolic disease, 20(3), 1997, pp. 379-382
INBORN-ERRORS OF PYRIMIDINE DEGRADATION - CLINICAL, BIOCHEMICAL AND MOLECULAR ASPECTS
Authors: VANGENNIP AH ABELING NGGM VREKEN P VANKUILENBURG ABP
Citation: Ah. Vangennip et al., INBORN-ERRORS OF PYRIMIDINE DEGRADATION - CLINICAL, BIOCHEMICAL AND MOLECULAR ASPECTS, Journal of inherited metabolic disease, 20(2), 1997, pp. 203-213
IMPROVED SELECTIVITY OF URINARY OLIGOSACCHARIDE SCREENING USING 2 ONE-DIMENSIONAL TLC SYSTEMS
Authors: ABELING NGGM RUSCH H VANGENNIP H
Citation: Nggm. Abeling et al., IMPROVED SELECTIVITY OF URINARY OLIGOSACCHARIDE SCREENING USING 2 ONE-DIMENSIONAL TLC SYSTEMS, Journal of inherited metabolic disease, 19(2), 1996, pp. 260-262
SPECIFIC GENETIC DEFICIENCIES OF THE A-ISOENZYME AND B-ISOENZYME OF MONOAMINE-OXIDASE ARE CHARACTERIZED BY DISTINCT NEUROCHEMICAL AND CLINICAL PHENOTYPES
Authors: LENDERS JWM EISENHOFER G ABELING NGGM BERGER W MURPHY DL KONINGS CH WAGEMAKERS LMB KOPIN IJ KAROUM F VANGENNIP AH BRUNNER HG
Citation: Jwm. Lenders et al., SPECIFIC GENETIC DEFICIENCIES OF THE A-ISOENZYME AND B-ISOENZYME OF MONOAMINE-OXIDASE ARE CHARACTERIZED BY DISTINCT NEUROCHEMICAL AND CLINICAL PHENOTYPES, The Journal of clinical investigation, 97(4), 1996, pp. 1010-1019
DIAGNOSIS OF A NEW CASE OF TRIMETHYLAMINURIA USING DIRECT PROTON NMR-SPECTROSCOPY OF URINE
Authors: ABELING NGGM VANGENNIP AH BAKKER HD HEERSCHAP A ENGELKE U WEVERS RA
Citation: Nggm. Abeling et al., DIAGNOSIS OF A NEW CASE OF TRIMETHYLAMINURIA USING DIRECT PROTON NMR-SPECTROSCOPY OF URINE, Journal of inherited metabolic disease, 18(2), 1995, pp. 182-184
COMBINED DEFICIENCIES OF NADPH-DEPENDENT AND NADH-DEPENDENT DIHYDROPYRIMIDINE DEHYDROGENASES, A NEW FINDING IN A FAMILY WITH THYMINE-URACILURIA
Authors: VANGENNIP AH VANLENTHE H ABELING NGGM BAKKER HD VANKUILENBURG ABP
Citation: Ah. Vangennip et al., COMBINED DEFICIENCIES OF NADPH-DEPENDENT AND NADH-DEPENDENT DIHYDROPYRIMIDINE DEHYDROGENASES, A NEW FINDING IN A FAMILY WITH THYMINE-URACILURIA, Journal of inherited metabolic disease, 18(2), 1995, pp. 185-188
NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY
Authors: BAKKER HD WESTRA M OVERWEGPLANDSOEN WCG VANWAVEREN G SMITT JHS ABELING NGGM WANDERS RJA SCHUTGENS RBH VANGENNIP AH
Citation: Hd. Bakker et al., NORMALIZATION OF SEVERE CRANIAL CT SCAN ABNORMALITIES AFTER BIOTIN INA CASE OF BIOTINIDASE DEFICIENCY, European journal of pediatrics, 153(11), 1994, pp. 861-862
FORMIMINOGLUTAMIC HYDANTOINPROPIONIC ACIDURIA IN 3 PATIENTS WITH DIFFERENT TUMORS/
Authors: VANGENNIP AH ABELING NGGM NIJENHUIS AA VOUTE PA BAKKER HD
Citation: Ah. Vangennip et al., FORMIMINOGLUTAMIC HYDANTOINPROPIONIC ACIDURIA IN 3 PATIENTS WITH DIFFERENT TUMORS/, Journal of inherited metabolic disease, 17(5), 1994, pp. 642-643
BIOGENIC-AMINE METABOLITE PATTERNS IN THE URINE OF MONOAMINE-OXIDASE A-DEFICIENT PATIENTS - A POSSIBLE TOOL FOR DIAGNOSIS
Authors: ABELING NGGM VANGENNIP AH OVERMARS H VANOOST BA BRUNNER HG
Citation: Nggm. Abeling et al., BIOGENIC-AMINE METABOLITE PATTERNS IN THE URINE OF MONOAMINE-OXIDASE A-DEFICIENT PATIENTS - A POSSIBLE TOOL FOR DIAGNOSIS, Journal of inherited metabolic disease, 17(3), 1994, pp. 339-341
VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS
Authors: BAKKER HD SCHOLTE HR JENESON JAL BUSCH HFM ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., VITAMIN-RESPONSIVE COMPLEX-I DEFICIENCY IN A MYOPATHIC PATIENT WITH INCREASED ACTIVITY OF THE TERMINAL RESPIRATORY-CHAIN AND LACTIC-ACIDOSIS, Journal of inherited metabolic disease, 17(2), 1994, pp. 196-204
CLINICAL AND BIOCHEMICAL FINDINGS IN 6 PATIENTS WITH PYRIMIDINE DEGRADATION DEFECTS
Authors: VANGENNIP AH ABELING NGGM STROOMER AEM VANLENTHE H BAKKER HD
Citation: Ah. Vangennip et al., CLINICAL AND BIOCHEMICAL FINDINGS IN 6 PATIENTS WITH PYRIMIDINE DEGRADATION DEFECTS, Journal of inherited metabolic disease, 17(1), 1994, pp. 130-132
THE DETECTION OF MOLYBDENUM COFACTOR DEFICIENCY - CLINICAL SYMPTOMATOLOGY AND URINARY METABOLITE PROFILE
Authors: VANGENNIP AH ABELING NGGM STROOMER AEM OVERMARS H BAKKER HD
Citation: Ah. Vangennip et al., THE DETECTION OF MOLYBDENUM COFACTOR DEFICIENCY - CLINICAL SYMPTOMATOLOGY AND URINARY METABOLITE PROFILE, Journal of inherited metabolic disease, 17(1), 1994, pp. 142-145
MOLYBDENUM-COFACTOR DEFICIENCY - AN EASILY MISSED CAUSE OF NEONATAL CONVULSIONS
Authors: SLOT HMJ OVERWEGPLANDSOEN WCG BAKKER HD ABELING NGGM TAMMINGA P BARTH PG VANGENNIP AH
Citation: Hmj. Slot et al., MOLYBDENUM-COFACTOR DEFICIENCY - AN EASILY MISSED CAUSE OF NEONATAL CONVULSIONS, Neuropediatrics, 24(3), 1993, pp. 139-142
3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY - ABSENCE OF CLINICALSYMPTOMS DUE TO A SELF-IMPOSED DIETARY-FAT AND PROTEIN RESTRICTION
Authors: BAKKER HD WANDERS RJA SCHUTGENS RBH ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY - ABSENCE OF CLINICALSYMPTOMS DUE TO A SELF-IMPOSED DIETARY-FAT AND PROTEIN RESTRICTION, Journal of inherited metabolic disease, 16(6), 1993, pp. 1061-1062
MOLYBDENUM COFACTOR DEFICIENCY CAN MIMIC POSTANOXIC ENCEPHALOPATHY
Authors: BAKKER HD ABELING NGGM TENHOUTEN R VANDENBLIJ JF OVERWEGPLANDSOEN WCG WANDERS RJA VANGENNIP AH
Citation: Hd. Bakker et al., MOLYBDENUM COFACTOR DEFICIENCY CAN MIMIC POSTANOXIC ENCEPHALOPATHY, Journal of inherited metabolic disease, 16(5), 1993, pp. 900-901
ADENINE-NUCLEOTIDE TRANSLOCATOR DEFICIENCY IN MUSCLE - POTENTIAL THERAPEUTIC VALUE OF VITAMIN-E
Authors: BAKKER HD SCHOLTE HR VANDENBOGERT C JENESON JAL RUITENBEEK W WANDERS RJA ABELING NGGM VANGENNIP AH
Citation: Hd. Bakker et al., ADENINE-NUCLEOTIDE TRANSLOCATOR DEFICIENCY IN MUSCLE - POTENTIAL THERAPEUTIC VALUE OF VITAMIN-E, Journal of inherited metabolic disease, 16(3), 1993, pp. 548-552
X-LINKED BORDERLINE MENTAL-RETARDATION WITH PROMINENT BEHAVIORAL DISTURBANCE - PHENOTYPE, GENETIC LOCALIZATION, AND EVIDENCE FOR DISTURBED MONOAMINE METABOLISM
Authors: BRUNNER HG NELEN MR VANZANDVOORT P ABELING NGGM VANGENNIP AH WOLTERS EC KUIPER MA ROPERS HH VANOOST BA
Citation: Hg. Brunner et al., X-LINKED BORDERLINE MENTAL-RETARDATION WITH PROMINENT BEHAVIORAL DISTURBANCE - PHENOTYPE, GENETIC LOCALIZATION, AND EVIDENCE FOR DISTURBED MONOAMINE METABOLISM, American journal of human genetics, 52(6), 1993, pp. 1032-1039
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