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Results: 1-16 |
Results: 16
MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA
Authors: THONY B NEUHEISER F KIERAT L ROLLAND MO GUIBAUD P SCHLUTER T GERMANN R HEIDENREICH RA DURAN M DEKLERK JBC AYLING JE BLAU N
Citation: B. Thony et al., MUTATIONS IN THE PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE (PCBD) GENECAUSE A BENIGN FORM OF HYPERPHENYLALANINEMIA, Human genetics, 103(2), 1998, pp. 162-167
A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES
Authors: DECOO IFM SISTERMANS EA DEWIJS IJ CATSMANBERREVOETS C BUSCH HFM SCHOLTE HR DEKLERK JBC VANOOST BA SMEETS HJM
Citation: Ifm. Decoo et al., A MITOCHONDRIAL TRNA(VAL) GENE MUTATION (G1642A) IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, LACTIC-ACIDOSIS, AND STROKE-LIKE EPISODES, Neurology, 50(1), 1998, pp. 293-295
PEROXISOMAL D-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - RESOLUTION OF THE ENZYME DEFECT AND ITS MOLECULAR-BASIS IN BIFUNCTIONAL PROTEIN-DEFICIENCY
Authors: VANGRUNSVEN EG VANBERKEL E IJLST L VREKEN P DEKLERK JBC ADAMSKI J LEMONDE H CLAYTON PT CUEBAS DA WANDERS RJA
Citation: Eg. Vangrunsven et al., PEROXISOMAL D-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - RESOLUTION OF THE ENZYME DEFECT AND ITS MOLECULAR-BASIS IN BIFUNCTIONAL PROTEIN-DEFICIENCY, Proceedings of the National Academy of Sciences of the United Statesof America, 95(5), 1998, pp. 2128-2133
L-2-HYDROXYGLUTARIC ACIDURIA - CLINICAL HETEROGENEITY VERSUS BIOCHEMICAL HOMOGENEITY IN A SIBSHIP
Authors: DEKLERK JBC HUIJMANS JGM STROINK H ROBBEN SGF JAKOBS C DURAN M
Citation: Jbc. Deklerk et al., L-2-HYDROXYGLUTARIC ACIDURIA - CLINICAL HETEROGENEITY VERSUS BIOCHEMICAL HOMOGENEITY IN A SIBSHIP, Neuropediatrics, 28(6), 1997, pp. 314-317
L-2-HYDROXYGLUTARIC ACIDURIA - NORMAL L-2-HYDROXYGLUTARATE DEHYDROGENASE-ACTIVITY IN LIVER FROM 2 NEW PATIENTS
Authors: WANDERS RJA VILARINHO L HARTUNG HP HOFFMANN GF MOOIJER PAW JANSEN GA HUIJMANS JGM DEKLERK JBC TENBRINK HJ JAKOBS C DURAN M
Citation: Rja. Wanders et al., L-2-HYDROXYGLUTARIC ACIDURIA - NORMAL L-2-HYDROXYGLUTARATE DEHYDROGENASE-ACTIVITY IN LIVER FROM 2 NEW PATIENTS, Journal of inherited metabolic disease, 20(5), 1997, pp. 725-726
AUTOSOMAL RECESSIVE PHOSPHORYLASE-KINASE DEFICIENCY IN LIVER, CAUSED BY MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT (PHKB)
Authors: VANDENBERG IET VANBEURDEN EACM DEKLERK JBC VANDIGGELEN OP MALINGRE HEM BOER MM BERGER R
Citation: Iet. Vandenberg et al., AUTOSOMAL RECESSIVE PHOSPHORYLASE-KINASE DEFICIENCY IN LIVER, CAUSED BY MUTATIONS IN THE GENE ENCODING THE BETA-SUBUNIT (PHKB), American journal of human genetics, 61(3), 1997, pp. 539-546
TETRAHYDROBIOPTERIN LOADING TEST IN XANTHINE DEHYDROGENASE AND MOLYBDENUM COFACTOR DEFICIENCIES
Authors: BLAU N DEKLERK JBC THONY B HEIZMANN CW KIERAT L SMEITINK JAM DURAN M
Citation: N. Blau et al., TETRAHYDROBIOPTERIN LOADING TEST IN XANTHINE DEHYDROGENASE AND MOLYBDENUM COFACTOR DEFICIENCIES, Biochemical and molecular medicine, 58(2), 1996, pp. 199-203
SUDDEN INFANT DEATH AND LYSINURIC PROTEIN INTOLERANCE
Authors: DEKLERK JBC DURAN M HUIJMANS JGM MANCINI GMS
Citation: Jbc. Deklerk et al., SUDDEN INFANT DEATH AND LYSINURIC PROTEIN INTOLERANCE, European journal of pediatrics, 155(3), 1996, pp. 256-257
AMNIOTIC-FLUID ODD-CHAIN FATTY-ACIDS ARE INCREASED IN PROPIONIC ACIDEMIA
Authors: COKER M DURAN M DEKLERK JBC KLEIJER WJ JAKOBS C HUIJMANS JGM
Citation: M. Coker et al., AMNIOTIC-FLUID ODD-CHAIN FATTY-ACIDS ARE INCREASED IN PROPIONIC ACIDEMIA, Prenatal diagnosis, 16(10), 1996, pp. 941-944
CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY
Authors: HOFFMANN GF ATHANASSOPOULOS S BURLINA AB DURAN M DEKLERK JBC LEHNERT W LEONARD JV MONAVARI AA MULLER E MUNTAU AC NAUGHTEN ER PLECKOSTARTING B SUPERTIFURGA A ZSCHOCKE J CHRISTENSEN E
Citation: Gf. Hoffmann et al., CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY, Neuropediatrics, 27(3), 1996, pp. 115-123
PLASMA TOTAL ODD-CHAIN FATTY-ACIDS IN THE MONITORING OF DISORDERS OF PROPIONATE, METHYLMALONATE AND BIOTIN METABOLISM
Authors: COKER M DEKLERK JBC POLLTHE BT HUIJMANS JGM DURAN M
Citation: M. Coker et al., PLASMA TOTAL ODD-CHAIN FATTY-ACIDS IN THE MONITORING OF DISORDERS OF PROPIONATE, METHYLMALONATE AND BIOTIN METABOLISM, Journal of inherited metabolic disease, 19(6), 1996, pp. 743-751
EVALUATION OF THE PRESENCE OF PREMATURE ATHEROSCLEROSIS IN ADULTS WITH HETEROZYGOSITY FOR CYSTATHIONINE-BETA-SYNTHASE DEFICIENCY
Authors: DEVALK HW VANEEDEN MKG BANGA JD VANDERGRIEND R DEGROOT E HAAS FJLM MEUWISSEN OJAT DURAN M SMEITINK JAM POLLTHE BT DEKLERK JBC
Citation: Hw. Devalk et al., EVALUATION OF THE PRESENCE OF PREMATURE ATHEROSCLEROSIS IN ADULTS WITH HETEROZYGOSITY FOR CYSTATHIONINE-BETA-SYNTHASE DEFICIENCY, Stroke, 27(6), 1996, pp. 1134-1136
PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GDD)
Authors: HOFFMANN G BURLINA A DURAN M DEKLERK JBC LEONARD JV MUNTAU A NAUGHTEN ER PLECKOSTARTING FK SUPERTIFURGA A CHRISTENSEN E
Citation: G. Hoffmann et al., PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GDD), Pediatric research, 39(4), 1996, pp. 859-859
LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - HIGH-FREQUENCY OF THE G1528C MUTATION WITH NO APPARENT CORRELATION WITH THE CLINICAL PHENOTYPE
Authors: IJLST L USKIKUBO S KAMIJO T HASHIMOTO T RUITER JPN DEKLERK JBC WANDERS RJA
Citation: L. Ijlst et al., LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - HIGH-FREQUENCY OF THE G1528C MUTATION WITH NO APPARENT CORRELATION WITH THE CLINICAL PHENOTYPE, Journal of inherited metabolic disease, 18(2), 1995, pp. 241-244
PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GDD)
Authors: HOFFMANN GF BURLINA A DURAN M DEKLERK JBC LEHNERT W LEONARD JV MUNTAU A PLECKOSTARTING FK CHRISTENSEN E
Citation: Gf. Hoffmann et al., PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY (GDD), Pediatric research, 38(3), 1995, pp. 438-438
SOLOMONS EPIDERMAL NEVUS SYNDROME (TYPE LINEAR NEVUS SEBACEUS) AND HYPOPHOSPHATEMIC VITAMIN-D-RESISTANT RICKETS
Authors: ORANJE AP PRZYREMBEL H MERADJI M LOONEN MCB DEKLERK JBC
Citation: Ap. Oranje et al., SOLOMONS EPIDERMAL NEVUS SYNDROME (TYPE LINEAR NEVUS SEBACEUS) AND HYPOPHOSPHATEMIC VITAMIN-D-RESISTANT RICKETS, Archives of dermatology, 130(9), 1994, pp. 1167-1171
Risultati: 1-16 |