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Results: 1-25/58
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
Authors:
NURNBERGER W
LARYEA M
JOCHUM F
WENDEL U
GOBEL U
Citation: W. Nurnberger et al., HOMOCYSTEINE (HCY) CONCENTRATIONS IN CHILDREN UNDERGOING ALLOGENEIC BLOOD STEM-CELL TRANSPLANTATION (BSCT), Bone marrow transplantation, 21, 1998, pp. 428-428
Authors:
RUBIOGOZALBO ME
RUITENBEEK W
WENDEL U
SENGERS RCA
TRIJBELS JMF
SMEITINK JAM
Citation: Me. Rubiogozalbo et al., SYSTEMIC INFANTILE COMPLEX-I DEFICIENCY WITH FATAL OUTCOME IN 2 BROTHERS, Neuropediatrics, 29(1), 1998, pp. 43-45
Authors:
HUIZING M
WENDEL U
RUITENBEEK W
IACOBAZZI V
IJLST L
VEENHUIZEN P
SAVELKOUL P
VANDENHEUVEL LP
SMEITINK JAM
WANDERS RJA
TRIJBELS JMF
PALMIERI F
Citation: M. Huizing et al., CARNITINE-ACYLCARNITINE CARRIER DEFICIENCY - IDENTIFICATION OF THE MOLECULAR DEFECT IN A PATIENT, Journal of inherited metabolic disease, 21(3), 1998, pp. 262-267
Authors:
GRUNEWALD S
HINRICHS F
WENDEL U
Citation: S. Grunewald et al., PREGNANCY IN A WOMAN WITH MAPLE-SYRUP-URINE-DISEASE, Journal of inherited metabolic disease, 21(2), 1998, pp. 89-94
Authors:
SCHADEWALDT P
BODNER A
BROSICKE H
HAMMEN HW
WENDEL U
Citation: P. Schadewaldt et al., ASSESSMENT OF WHOLE-BODY L-LEUCINE OXIDATION BY NONINVASIVE L-[1-C-13]LEUCINE BREATH TESTS - A REAPPRAISAL IN PATIENTS WITH MAPLE-SYRUP-URINE-DISEASE, OBLIGATE HETEROZYGOTES, AND HEALTHY-SUBJECTS, Pediatric research, 43(5), 1998, pp. 592-600
Authors:
LARYEA MD
STEINHAGEN F
PAWLICZEK S
WENDEL U
Citation: Md. Laryea et al., SIMPLE METHOD FOR THE ROUTINE DETERMINATION OF BETAINE AND N,N-DIMETHYLGLYCINE IN BLOOD AND URINE, Clinical chemistry, 44(9), 1998, pp. 1937-1941
Authors:
BODNER A
HAMMEN HW
RENN W
WENDEL U
SCHADEWALDT P
Citation: A. Bodner et al., WHOLE-BODY BRANCHED-CHAIN L-AMINO-ACID OXIDATION IN OVERNIGHT FASTED HUMAN-SUBJECTS, Isotopes in environmental and health studies, 33(1-2), 1997, pp. 189-196
Authors:
SCHADEWALDT P
WENDEL U
Citation: P. Schadewaldt et U. Wendel, METABOLISM OF BRANCHED-CHAIN AMINO-ACIDS IN MAPLE-SYRUP-URINE-DISEASE, European journal of pediatrics, 156, 1997, pp. 62-66
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
Authors:
ENGELBRECHT V
RASSEK M
HUISMANN J
WENDEL U
Citation: V. Engelbrecht et al., MR AND PROTON MR SPECTROSCOPY OF THE BRAIN IN HYPERHOMOCYSTEINEMIA CAUSED BY METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY, American journal of neuroradiology, 18(3), 1997, pp. 536-539
Authors:
SCHURMANN M
ENGELBRECHT V
LOHMEIER K
LENARD HG
WENDEL U
GARTNER J
Citation: M. Schurmann et al., CEREBRAL METABOLIC CHANGES IN BIOTINIDASE DEFICIENCY, Journal of inherited metabolic disease, 20(6), 1997, pp. 755-760
Authors:
GRUNEWALD S
BAKKEREN J
WANDERS RA
WENDEL U
Citation: S. Grunewald et al., NEONATAL LETHAL MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY MIMICKING A RESPIRATORY-CHAIN DEFECT, Journal of inherited metabolic disease, 20(6), 1997, pp. 835-836
Authors:
MOURMANS J
WENDEL U
BENTLAGE HACM
TRIJBELS JMF
SMEITINK JAM
DECOO IFM
GABREELS FJM
SENGERS RCA
RUITENBEEK W
Citation: J. Mourmans et al., CLINICAL HETEROGENEITY IN RESPIRATORY-CHAIN COMPLEX-III DEFICIENCY INCHILDHOOD, Journal of the neurological sciences, 149(1), 1997, pp. 111-117
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
Authors:
VANBEURDEN EACM
DEGRAAF M
WENDEL U
GITZELMANN R
BERGER R
VANDENBERG IET
Citation: Eacm. Vanbeurden et al., AUTOSOMAL RECESSIVE LIVER PHOSPHORYLASE-KINASE DEFICIENCY CAUSED BY ANOVEL SPLICE-SITE MUTATION IN GENE ENCODING THE LIVER GAMMA-SUBUNIT (PHKG2), Biochemical and biophysical research communications, 236(3), 1997, pp. 544-548
Authors:
SCHADEWALDT P
WENDEL U
HAMMEN HW
Citation: P. Schadewaldt et al., DETERMINATION OF R-3-METHYL-2-OXOPENTANOATE AND S-3-METHYL-2-OXOPENTANOATE ENANTIOMERS IN HUMAN PLASMA - SUITABLE METHOD FOR LABEL ENRICHMENT ANALYSIS, Journal of chromatography B. Biomedical applications, 682(2), 1996, pp. 209-218
Authors:
BODNER A
RENN W
WENDEL U
SCHADEWALDT P
Citation: A. Bodner et al., COMPARTMENTAL APPROACH FOR EVALUATION OF PLASMA KINETICS AND (CO2)-C-13-EXHALATION AFTER ORAL LOADING WITH L-[1-C-13]LEUCINE, Isotopes in environmental and health studies, 32(2-3), 1996, pp. 237-246
Authors:
WENDEL U
Citation: U. Wendel, CONGENITAL RICKETS - REPLY, European journal of pediatrics, 155(9), 1996, pp. 831-831
Authors:
WENDEL U
LANGENBECK U
Citation: U. Wendel et U. Langenbeck, TOWARDS SELF-MONITORING AND SELF-TREATMENT IN PHENYLKETONURIA - A WAYTO BETTER DIET COMPLIANCE, European journal of pediatrics, 155, 1996, pp. 105-107
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
Authors:
RUITENBEEK W
WENDEL U
HAMEL BCJ
TRIJBELS JMF
Citation: W. Ruitenbeek et al., GENETIC-COUNSELING AND PRENATAL-DIAGNOSIS IN DISORDERS OF THE MITOCHONDRIAL ENERGY-METABOLISM, Journal of inherited metabolic disease, 19(4), 1996, pp. 581-587
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
Authors:
BENTLAGE HACM
WENDEL U
SCHAGGER H
TERLAAK HJ
JANSSEN AJM
TRIJBELS JMF
Citation: Hacm. Bentlage et al., LETHAL INFANTILE MITOCHONDRIAL DISEASE WITH ISOLATED COMPLEX-I DEFICIENCY IN FIBROBLASTS BUT WITH COMBINED COMPLEX-I AND COMPLEX-IV DEFICIENCIES IN MUSCLE, Neurology, 47(1), 1996, pp. 243-248
Authors:
DEUFEL T
MONCH E
PAETZKE I
PRZYREMBEL H
WENDEL U
WILICHOWSKSI E
Citation: T. Deufel et al., DIAGNOSIS AND TREATMENT OF MITOCHONDRIAL (ENCEPHALO)MYOPATHIES - RECOMMENDATIONS BY THE ITSGEMEINSCHAFT-PADIATRISCHE-STOFFWECHSELSTORUNGEN, Monatsschrift fur Kinderheilkunde, 144(7), 1996, pp. 765-768