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Results: 1-25 | 26-50 | 51-52
Results: 26-50/52
H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN 2 PATIENTS WITH A CREATINE BIOSYNTHESIS DEFECT
Authors: WEVERS RA STOCKLER S ENGELKE U HEERSCHAP A SCHULZE A RATING D HANEFELD F
Citation: Ra. Wevers et al., H-1-NMR SPECTROSCOPY OF BODY-FLUIDS IN 2 PATIENTS WITH A CREATINE BIOSYNTHESIS DEFECT, Journal of neurochemistry, 66, 1996, pp. 25-25
A NEW CASE OF TYROSINE-HYDROXYLASE DEFICIENCY
Authors: WEVERS RA DERIJKVANANDEL JF GABREELS FJM LUDECKE B BLAU N BARTHOLOME K
Citation: Ra. Wevers et al., A NEW CASE OF TYROSINE-HYDROXYLASE DEFICIENCY, Journal of neurochemistry, 66, 1996, pp. 27-27
UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE
Authors: REDONNETVERNHET I VANAMSTEL JKP JANSEN RPM WEVERS RA SALVAYRE R LEVADE T
Citation: I. Redonnetvernhet et al., UNEVEN X INACTIVATION IN A FEMALE MONOZYGOTIC TWIN PAIR WITH FABRY DISEASE AND DISCORDANT EXPRESSION OF A NOVEL MUTATION IN THE ALPHA-GALACTOSIDASE-A GENE, Journal of Medical Genetics, 33(8), 1996, pp. 682-688
HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE
Authors: KEULEMANS JLM REUSER AJJ KROOS MA WILLEMSEN R HERMANS MMP VANDENOUWELAND AMW DEJONG JGN WEVERS RA RENIER WO SCHINDLER D COLL MJ CHABAS A SAKURABA H SUZUKI Y VANDIGGELEN OP
Citation: Jlm. Keulemans et al., HUMAN ALPHA-N-ACETYLGALACTOSAMINIDASE (ALPHA-NAGA) DEFICIENCY - NEW MUTATIONS AND THE PARADOX BETWEEN GENOTYPE AND PHENOTYPE, Journal of Medical Genetics, 33(6), 1996, pp. 458-464
ION-TRANSPORT IN HUMAN SKELETAL-MUSCLE CELLS - DISTURBANCES IN MYOTONIC-DYSTROPHY AND BRODYS DISEASE
Authors: BENDERS AAGM WEVERS RA VEERKAMP JH
Citation: Aagm. Benders et al., ION-TRANSPORT IN HUMAN SKELETAL-MUSCLE CELLS - DISTURBANCES IN MYOTONIC-DYSTROPHY AND BRODYS DISEASE, Acta Physiologica Scandinavica, 156(3), 1996, pp. 355-367
THE EFFECTS OF MM-CREATINE KINASE-DEFICIENCY ON SUSTAINED FORCE PRODUCTION OF MOUSE FAST SKELETAL-MUSCLE
Authors: DEHAAN A KOUDIJS JCM WEVERS RA WIERINGA B
Citation: A. Dehaan et al., THE EFFECTS OF MM-CREATINE KINASE-DEFICIENCY ON SUSTAINED FORCE PRODUCTION OF MOUSE FAST SKELETAL-MUSCLE, Experimental physiology, 80(3), 1995, pp. 491-494
FASTING STUDIES IN CEREBROSPINAL-FLUID AND BLOOD IN CHILDREN WITH EPILEPSY OF UNKNOWN ORIGIN
Authors: LAMERS KJB GABREELS FJM RENIER WO WEVERS RA DOESBURG WH
Citation: Kjb. Lamers et al., FASTING STUDIES IN CEREBROSPINAL-FLUID AND BLOOD IN CHILDREN WITH EPILEPSY OF UNKNOWN ORIGIN, Epilepsy research, 21(1), 1995, pp. 59-63
METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT
Authors: LUYTEN JAFM WENINK PW STEENBERGENSPANJERS GCH WEVERS RA VANAMSTEL HKP DEJONG JGN VANDENHEUVEL LPWJ
Citation: Jafm. Luyten et al., METACHROMATIC LEUKODYSTROPHY - A 12-BP DELETION IN EXON-2 OF THE ARYLSULFATASE-A GENE IN A LATE INFANTILE VARIANT, Human genetics, 96(3), 1995, pp. 357-360
ELEVATED PLASMA CHITOTRIOSIDASE ACTIVITY IN VARIOUS LYSOSOMAL STORAGEDISORDERS
Authors: GUO YF HE W BOER AM WEVERS RA DEBRUIJN AM GROENER JEMM HOLLAK CEM AERTS JMFG GALJAARD H VANDIGGELEN OP
Citation: Yf. Guo et al., ELEVATED PLASMA CHITOTRIOSIDASE ACTIVITY IN VARIOUS LYSOSOMAL STORAGEDISORDERS, Journal of inherited metabolic disease, 18(6), 1995, pp. 717-722
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
HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES - REPLY
Authors: WEVERS RA ENGELKE U HEERSCHAP A
Citation: Ra. Wevers et al., HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES - REPLY, Clinical chemistry, 41(7), 1995, pp. 1055-1056
STANDARDIZED METHOD FOR HIGH-RESOLUTION H-1-NMR OF CEREBROSPINAL-FLUID
Authors: WEVERS RA ENGELKE U WENDEL U DEJONG JGN GABREELS FJM HEERSCHAP A
Citation: Ra. Wevers et al., STANDARDIZED METHOD FOR HIGH-RESOLUTION H-1-NMR OF CEREBROSPINAL-FLUID, Clinical chemistry, 41(5), 1995, pp. 744-751
EXTRACTION AND PURIFICATION OF GANGLIOSIDES FROM PLASMA AND FIBROBLASTS BEFORE ANALYSIS BY THIN-LAYER CHROMATOGRAPHY
Authors: LEENDERS RGG DEJONG JGN WEVERS RA
Citation: Rgg. Leenders et al., EXTRACTION AND PURIFICATION OF GANGLIOSIDES FROM PLASMA AND FIBROBLASTS BEFORE ANALYSIS BY THIN-LAYER CHROMATOGRAPHY, Annals of clinical biochemistry, 32, 1995, pp. 68-73
CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY
Authors: HAGEMAN ATM GABREELS FJM DEJONG JGN GABREELSFESTEN AAWM VANDENBERG CJMG VANOOST BA WEVERS RA
Citation: Atm. Hageman et al., CLINICAL SYMPTOMS OF ADULT METACHROMATIC LEUKODYSTROPHY AND ARYLSULFATASE-A PSEUDODEFICIENCY, Archives of neurology, 52(4), 1995, pp. 408-413
OCULAR AND SYSTEMIC MANIFESTATIONS OF CEREBROTENDINOUS XANTHOMATOSIS
Authors: CRUYSBERG JRM WEVERS RA VANENGELEN BGM PINCKERS A VANSPREEKEN A TOLBOOM JJM
Citation: Jrm. Cruysberg et al., OCULAR AND SYSTEMIC MANIFESTATIONS OF CEREBROTENDINOUS XANTHOMATOSIS, American journal of ophthalmology, 120(5), 1995, pp. 597-604
CEREBROSPINAL NEURON-SPECIFIC ENOLASE, S-100 AND MYELIN BASIC-PROTEININ NEUROLOGICAL DISORDERS
Authors: LAMERS KJB VANENGELEN BGM GABREELS FJM HOMMES OR BORM GF WEVERS RA
Citation: Kjb. Lamers et al., CEREBROSPINAL NEURON-SPECIFIC ENOLASE, S-100 AND MYELIN BASIC-PROTEININ NEUROLOGICAL DISORDERS, Acta neurologica Scandinavica, 92(3), 1995, pp. 247-251
6 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FAMILIES WITH FABRY DISEASE
Authors: VANAMSTEL JKP JANSEN RPM DEJONG JGN HAMEL BCJ WEVERS RA
Citation: Jkp. Vanamstel et al., 6 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE-A GENE IN FAMILIES WITH FABRY DISEASE, Human molecular genetics, 3(3), 1994, pp. 503-505
CLINICAL-FEATURES OF NIEMANN-PICK DISEASE TYPE-C - AN EXAMPLE OF THE DELAYED-ONSET, SLOWLY PROGRESSIVE PHENOTYPE AND AN OVERVIEW OF RECENT LITERATURE
Authors: VANDEVLASAKKER CJW GABREELS FJM WIJBURG HC WEVERS RA
Citation: Cjw. Vandevlasakker et al., CLINICAL-FEATURES OF NIEMANN-PICK DISEASE TYPE-C - AN EXAMPLE OF THE DELAYED-ONSET, SLOWLY PROGRESSIVE PHENOTYPE AND AN OVERVIEW OF RECENT LITERATURE, Clinical neurology and neurosurgery, 96(2), 1994, pp. 119-123
FOLATE-DEFICIENCY IN CEREBROSPINAL-FLUID ASSOCIATED WITH A DEFECT IN FOLATE BINDING-PROTEIN IN THE CENTRAL-NERVOUS-SYSTEM
Authors: WEVERS RA HANSEN SI HUBAR JLMV HOLM J HOIERMADSEN M JONGEN PJH
Citation: Ra. Wevers et al., FOLATE-DEFICIENCY IN CEREBROSPINAL-FLUID ASSOCIATED WITH A DEFECT IN FOLATE BINDING-PROTEIN IN THE CENTRAL-NERVOUS-SYSTEM, Journal of Neurology, Neurosurgery and Psychiatry, 57(2), 1994, pp. 223-226
HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES
Authors: WEVERS RA ENGELKE U HEERSCHAP A
Citation: Ra. Wevers et al., HIGH-RESOLUTION H-1-NMR SPECTROSCOPY OF BLOOD-PLASMA FOR METABOLIC STUDIES, Clinical chemistry, 40(7), 1994, pp. 1245-1250
HPLC ANALYSIS OF OLIGOSACCHARIDES IN URINE FROM OLIGOSACCHARIDOSIS PATIENTS
Authors: PEELEN GOH DEJONG JGN WEVERS RA
Citation: Goh. Peelen et al., HPLC ANALYSIS OF OLIGOSACCHARIDES IN URINE FROM OLIGOSACCHARIDOSIS PATIENTS, Clinical chemistry, 40(6), 1994, pp. 914-921
MUCOPOLYSACCHARIDOSES SCREENING - DIMETHYLMETHYLENE BLUE VERSUS ALCIAN BLUE
Authors: DEJONG JGN HEIJS WMJ WEVERS RA
Citation: Jgn. Dejong et al., MUCOPOLYSACCHARIDOSES SCREENING - DIMETHYLMETHYLENE BLUE VERSUS ALCIAN BLUE, Annals of clinical biochemistry, 31, 1994, pp. 267-271
DECREASED VITAMIN-B(12) AND FOLATE LEVELS IN CEREBROSPINAL-FLUID AND SERUM OF MULTIPLE-SCLEROSIS PATIENTS AFTER HIGH-DOSE INTRAVENOUS METHYLPREDNISOLONE
Authors: FREQUIN STFM WEVERS RA BRAAM M BARKHOF F HOMMES OR
Citation: Stfm. Frequin et al., DECREASED VITAMIN-B(12) AND FOLATE LEVELS IN CEREBROSPINAL-FLUID AND SERUM OF MULTIPLE-SCLEROSIS PATIENTS AFTER HIGH-DOSE INTRAVENOUS METHYLPREDNISOLONE, Journal of neurology, 240(5), 1993, pp. 305-308
DEFICIENCY OF NA+ K+-ATPASE AND SARCOPLASMIC-RETICULUM CA2+-ATPASE INSKELETAL-MUSCLE AND CULTURED MUSCLE-CELLS OF MYOTONIC-DYSTROPHY PATIENTS/
Authors: BENDERS AAGM TIMMERMANS JAH OOSTERHOF A TERLAAK HJ VANKUPPEVELT THMSM WEVERS RA VEERKAMP JH
Citation: Aagm. Benders et al., DEFICIENCY OF NA+ K+-ATPASE AND SARCOPLASMIC-RETICULUM CA2+-ATPASE INSKELETAL-MUSCLE AND CULTURED MUSCLE-CELLS OF MYOTONIC-DYSTROPHY PATIENTS/, Biochemical journal, 293, 1993, pp. 269-274
ATP-DRIVEN ION PUMPS AND VOLTAGE-SENSITIVE ION CHANNELS IN CULTURED MUSCLE-CELLS AND OR SKELETAL-MUSCLE OF MYOTONIC-DYSTROPHY PATIENTS
Authors: BENDERS AAGM OUBRIE A OOSTERHOF A VEERKAMP JH WEVERS RA
Citation: Aagm. Benders et al., ATP-DRIVEN ION PUMPS AND VOLTAGE-SENSITIVE ION CHANNELS IN CULTURED MUSCLE-CELLS AND OR SKELETAL-MUSCLE OF MYOTONIC-DYSTROPHY PATIENTS, Journal of muscle research and cell motility, 14(2), 1993, pp. 226-226
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