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Results: 1-25 | 26-50 | 51-52
Results: 1-25/52
ABNORMALITIES OF BIOGENIC-AMINES AFFECTING THE METABOLISM OF SEROTONIN AND CATECHOLAMINES
Authors: LAMERS KJB WEVERS RA
Citation: Kjb. Lamers et Ra. Wevers, ABNORMALITIES OF BIOGENIC-AMINES AFFECTING THE METABOLISM OF SEROTONIN AND CATECHOLAMINES, Multiple sclerosis, 4(1), 1998, pp. 37-38
DOPA-RESPONSIVE DYSTONIA - A CLINICAL AND MOLECULAR-GENETIC STUDY
Authors: BANDMANN O VALENTE EM HOLMANS P SURTEES RAH WALTERS JH WEVERS RA MARSDEN CD WOOD NW
Citation: O. Bandmann et al., DOPA-RESPONSIVE DYSTONIA - A CLINICAL AND MOLECULAR-GENETIC STUDY, Annals of neurology, 44(4), 1998, pp. 649-656
GENETIC-CHARACTERISTICS OF MYOADENYLATE DEAMINASE DEFICIENCY
Authors: VERZIJL HTFM VANENGELEN BGM LUYTEN JAFM STEENBERGEN GCH VANDENHEUVEL LPWJ TERLAAK HJ PADBERG GW WEVERS RA
Citation: Htfm. Verzijl et al., GENETIC-CHARACTERISTICS OF MYOADENYLATE DEAMINASE DEFICIENCY, Annals of neurology, 44(1), 1998, pp. 140-143
A COMMON POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE IN AUTOSOMALRECESSIVE L-DOPA-RESPONSIVE DYSTONIA IN THE DUTCH POPULATION
Authors: VANDENHEUVEL LPWJ LUITEN B SMEITINK JAM RIJKVANANDEL JF HYLAND K STEENBERGENSPANJERS GCH JANSSEN RJT WEVERS RA
Citation: Lpwj. Vandenheuvel et al., A COMMON POINT MUTATION IN THE TYROSINE-HYDROXYLASE GENE IN AUTOSOMALRECESSIVE L-DOPA-RESPONSIVE DYSTONIA IN THE DUTCH POPULATION, Human genetics, 102(6), 1998, pp. 644-646
TREATMENT AND FOLLOW-UP OF CHILDREN WITH CEREBROTENDINOUS XANTHOMATOSIS
Authors: VANHEIJST AFJ VERRIPS A WEVERS RA CRUYSBERG JRM RENIER WO TOLBOOM JJM
Citation: Afj. Vanheijst et al., TREATMENT AND FOLLOW-UP OF CHILDREN WITH CEREBROTENDINOUS XANTHOMATOSIS, European journal of pediatrics, 157(4), 1998, pp. 313-316
CEREBROSPINAL-FLUID INVESTIGATIONS FOR NEUROMETABOLIC DISORDERS
Authors: HOFFMANN GF SURTEES RAH WEVERS RA
Citation: Gf. Hoffmann et al., CEREBROSPINAL-FLUID INVESTIGATIONS FOR NEUROMETABOLIC DISORDERS, Neuropediatrics, 29(2), 1998, pp. 59-71
ANION-EXCHANGE CHROMATOGRAPHY VERSUS ISOELECTRIC-FOCUSING OF TRANSFERRIN IN DIAGNOSING THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: VREKEN P RUSCH H HUIJBEN K WEVERS RA
Citation: P. Vreken et al., ANION-EXCHANGE CHROMATOGRAPHY VERSUS ISOELECTRIC-FOCUSING OF TRANSFERRIN IN DIAGNOSING THE CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 21(4), 1998, pp. 447-448
OLIGOSACCHARIDE EXCRETION IN ADULT GAUCHER-DISEASE
Authors: DEJONG JGN AERTS JMFG VANWEELY S HOLLAK CEM VANPELT J VANWOERKOM LMJ LIEBRANDVANSAMBEEK MLF WEVERS RA
Citation: Jgn. Dejong et al., OLIGOSACCHARIDE EXCRETION IN ADULT GAUCHER-DISEASE, Journal of inherited metabolic disease, 21(1), 1998, pp. 49-59
INTRAVENOUS IMMUNOGLOBULIN PREPARATION INCREASES MYOPLASMIC CALCIUM-CONCENTRATION BY ACTIVATING THE DIHYDROPYRIDINE-RYANODINE RECEPTOR COMPLEX
Authors: VANENGELEN BGM BENDERS AAGM WEVERS RA GABREELS FJM RENIER WO VEERKAMP JH
Citation: Bgm. Vanengelen et al., INTRAVENOUS IMMUNOGLOBULIN PREPARATION INCREASES MYOPLASMIC CALCIUM-CONCENTRATION BY ACTIVATING THE DIHYDROPYRIDINE-RYANODINE RECEPTOR COMPLEX, Journal of the neurological sciences, 156(1), 1998, pp. 35-40
BIOCHEMICAL HALLMARKS OF TYROSINE-HYDROXYLASE DEFICIENCY
Authors: BRAUTIGAM C WEVERS RA JANSEN RJT SMEITINK JAM DERIJKVANANDEL JF GABREELS FJM HOFFMANN GF
Citation: C. Brautigam et al., BIOCHEMICAL HALLMARKS OF TYROSINE-HYDROXYLASE DEFICIENCY, Clinical chemistry, 44(9), 1998, pp. 1897-1904
SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE
Authors: WATERHAM HR WIJBURG FA HENNEKAM RCM VREKEN P POLLTHE BT DORLAND L DURAN M JIRA PE SMEITINK JAM WEVERS RA WANDERS RJA
Citation: Hr. Waterham et al., SMITH-LEMLI-OPITZ-SYNDROME IS CAUSED BY MUTATIONS IN THE 7-DEHYDROCHOLESTEROL REDUCTASE GENE, American journal of human genetics, 63(2), 1998, pp. 329-338
ROLE OF COBALAMIN INTAKE AND ATROPHIC GASTRITIS IN MILD COBALAMIN DEFICIENCY IN OLDER DUTCH SUBJECTS
Authors: VANASSELT DZB DEGROOT LCPGM VANSTAVEREN WA BLOM HJ WEVERS RA BIEMOND I HOEFNAGELS WHL
Citation: Dzb. Vanasselt et al., ROLE OF COBALAMIN INTAKE AND ATROPHIC GASTRITIS IN MILD COBALAMIN DEFICIENCY IN OLDER DUTCH SUBJECTS, The American journal of clinical nutrition, 68(2), 1998, pp. 328-334
CEREBROSPINAL-FLUID METHYLMALONIC ACID CONCENTRATIONS IN NEUROLOGICALPATIENTS WITH LOW AND NORMAL SERUM COBALAMIN CONCENTRATIONS
Authors: VANASSELT DZB KARLIETIS MHJ POELS PJE DEJONG JGN WEVERS RA HOEFNAGELS WHL
Citation: Dzb. Vanasselt et al., CEREBROSPINAL-FLUID METHYLMALONIC ACID CONCENTRATIONS IN NEUROLOGICALPATIENTS WITH LOW AND NORMAL SERUM COBALAMIN CONCENTRATIONS, Acta neurologica Scandinavica, 97(6), 1998, pp. 413-416
NEURON-SPECIFIC ENOLASE, S-100 PROTEIN, MYELIN BASIC-PROTEIN AND LACTATE IN CSF IN DEMENTIA
Authors: NOOIJEN PTGA SCHOONDERWALDT HC WEVERS RA HOMMES OR LAMERS KJB
Citation: Ptga. Nooijen et al., NEURON-SPECIFIC ENOLASE, S-100 PROTEIN, MYELIN BASIC-PROTEIN AND LACTATE IN CSF IN DEMENTIA, Dementia and geriatric cognitive disorders, 8(3), 1997, pp. 169-173
GLUCOCEREBROSIDASE GENOTYPE OF GAUCHER PATIENTS IN THE NETHERLANDS - LIMITATIONS IN PROGNOSTIC VALUE
Authors: BOOT RG HOLLAK CEM VERHOEK M SLOOF P POORTHUIS BJHM KLEIJER WJ WEVERS RA VANOERS MHJ MANNENS MMAM AERTS JMFG VANWEELY S
Citation: Rg. Boot et al., GLUCOCEREBROSIDASE GENOTYPE OF GAUCHER PATIENTS IN THE NETHERLANDS - LIMITATIONS IN PROGNOSTIC VALUE, Human mutation, 10(5), 1997, pp. 348-358
EXON SKIPPING IN THE STEROL 27-HYDROXYLASE GENE LEADS TO CEREBROTENDINOUS XANTHOMATOSIS
Authors: VERRIPS A STEENBERGENSPANJERS GCH LUYTEN JAFM WEVERS RA WOKKE JHJ GABREELS FJM WOLTHERS BG VANDENHEUVEL LPWJ
Citation: A. Verrips et al., EXON SKIPPING IN THE STEROL 27-HYDROXYLASE GENE LEADS TO CEREBROTENDINOUS XANTHOMATOSIS, Human genetics, 100(2), 1997, pp. 284-286
DIHYDROPYRIMIDINASE DEFICIENCY, A PROGRESSIVE NEUROLOGICAL DISORDER
Authors: PUTMAN CWMM ROTTEVEEL JJ WEVERS RA VANGENNIP AH BAKKEREN JAJM DEABREU RA
Citation: Cwmm. Putman et al., DIHYDROPYRIMIDINASE DEFICIENCY, A PROGRESSIVE NEUROLOGICAL DISORDER, Neuropediatrics, 28(2), 1997, pp. 106-110
EXCITATION-CONTRACTION COUPLING OF CULTURED HUMAN SKELETAL-MUSCLE CELLS AND THE RELATION BETWEEN BASAL CYTOSOL CA2+ AND EXCITABILITY
Authors: BENDERS AAGM OOSTERHOF A WEVERS RA VEERKAMP JH
Citation: Aagm. Benders et al., EXCITATION-CONTRACTION COUPLING OF CULTURED HUMAN SKELETAL-MUSCLE CELLS AND THE RELATION BETWEEN BASAL CYTOSOL CA2+ AND EXCITABILITY, Cell calcium, 21(1), 1997, pp. 81-91
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
SMITH-LEMLI-OPITZ-SYNDROME - DEFICIENT DELTA(7)-REDUCTASE ACTIVITY INCULTURED SKIN FIBROBLASTS AND CHORIONIC VILLUS FIBROBLASTS AND ITS APPLICATION TO PRENATAL AND POSTNATAL DETECTION
Authors: WANDERS RJA ROMEIJN GJ WIJBURG F HENNEKAM RCM DEJONG J WEVERS RA DACREMONT G
Citation: Rja. Wanders et al., SMITH-LEMLI-OPITZ-SYNDROME - DEFICIENT DELTA(7)-REDUCTASE ACTIVITY INCULTURED SKIN FIBROBLASTS AND CHORIONIC VILLUS FIBROBLASTS AND ITS APPLICATION TO PRENATAL AND POSTNATAL DETECTION, Journal of inherited metabolic disease, 20(3), 1997, pp. 432-436
PITFALLS IN MEASURING PLASMA-CHOLESTEROL IN THE SMITH-LEMLI-OPITZ SYNDROME
Authors: JIRA PE DEJONG JGN JANSSENZIJLSTRA FSM WENDEL U WEVERS RA
Citation: Pe. Jira et al., PITFALLS IN MEASURING PLASMA-CHOLESTEROL IN THE SMITH-LEMLI-OPITZ SYNDROME, Clinical chemistry, 43(1), 1997, pp. 129-133
CHRONIC DIARRHEA AS A DOMINATING SYMPTOM IN 2 CHILDREN WITH CEREBROTENDINOUS XANTHOMATOSIS
Authors: VANHEIJST AFJ WEVERS RA TANGERMAN A CRUYSBERG JRM RENIERS WO TOLBOOM JJM
Citation: Afj. Vanheijst et al., CHRONIC DIARRHEA AS A DOMINATING SYMPTOM IN 2 CHILDREN WITH CEREBROTENDINOUS XANTHOMATOSIS, Acta paediatrica, 85(8), 1996, pp. 932-936
2 NEW MUTATIONS IN THE STEROL 27-HYDROXYLASE GENE IN 2 FAMILIES LEAD TO CEREBROTENDINOUS XANTHOMATOSIS
Authors: VERRIPS A STEENBERGENSPANJERS GCH LUYTEN JAFM VANDENHEUVEL LPWJ KEYSER A GABREELS FJM WEVERS RA
Citation: A. Verrips et al., 2 NEW MUTATIONS IN THE STEROL 27-HYDROXYLASE GENE IN 2 FAMILIES LEAD TO CEREBROTENDINOUS XANTHOMATOSIS, Human genetics, 98(6), 1996, pp. 735-737
CONGENITAL NEPHROTIC SYNDROME - A NOVEL PHENOTYPE OF TYPE-I CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
Authors: VANDERKNAAP MS WEVERS RA MONNENS L JAKOBS C JAEKEN J VANWIJK JAE
Citation: Ms. Vanderknaap et al., CONGENITAL NEPHROTIC SYNDROME - A NOVEL PHENOTYPE OF TYPE-I CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Journal of inherited metabolic disease, 19(6), 1996, pp. 787-791
IMPAIRMENT OF FORCE GENERATION IN SKELETAL-MUSCLES OF ANESTHETIZED MICE WITH CREATINE-KINASE DEFICIENCY
Authors: DEHAAN A KOUDIJS JCM JETTEN I STEEGHS K WEVERS RA
Citation: A. Dehaan et al., IMPAIRMENT OF FORCE GENERATION IN SKELETAL-MUSCLES OF ANESTHETIZED MICE WITH CREATINE-KINASE DEFICIENCY, Journal of physiology, 491P, 1996, pp. 125-126
Risultati: 1-25 | 26-50 | 51-52