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Results: 1-25 | 26-29
Results: 1-25/29
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses
Authors: Hogema, BM Akaboshi, S Taylor, M Salomons, GS Jakobs, C Schutgens, RB Wilcken, B Worthington, S Maropoulos, G Grompe, M Gibson, KM
Citation: Bm. Hogema et al., Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: Increased accuracy employing DNA, enzyme, and metabolite analyses, MOL GEN MET, 72(3), 2001, pp. 218-222
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
Authors: Hogema, BM Gupta, M Senephansiri, H Burlingame, TG Taylor, M Jakobs, C Schutgens, RBH Froestl, W Snead, OC Diaz-Arrastia, R Bottiglieri, T Grompe, M Gibson, KM
Citation: Bm. Hogema et al., Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase, NAT GENET, 29(2), 2001, pp. 212-216
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001)
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome (vol 9, pg 253, 2001), EUR J HUM G, 9(8), 2001, pp. 651-651
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
Authors: Houten, SM Koster, J Romeijn, GJ Frenkel, J Di Rocco, M Caruso, U Landrieu, P Kelley, RI Kuis, W Poll-The, BT Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome, EUR J HUM G, 9(4), 2001, pp. 253-259
Delayed-onset dystonia associated with 3-oxothiolase deficiency
Authors: Yalcinkaya, C Apaydin, H Ozekmekci, S Gibson, KM
Citation: C. Yalcinkaya et al., Delayed-onset dystonia associated with 3-oxothiolase deficiency, MOVEMENT D, 16(2), 2001, pp. 372-375
3D gadolinium-enhanced MRI venography: Evaluation of central chest veins and impact on patient management
Authors: Oxtoby, JW Widjaja, E Gibson, KM Uzoka, K
Citation: Jw. Oxtoby et al., 3D gadolinium-enhanced MRI venography: Evaluation of central chest veins and impact on patient management, CLIN RADIOL, 56(11), 2001, pp. 887-894
Development of a stable-isotope dilution assay for gamma-aminobutyric acid(GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical
Authors: Schor, DSM Struys, EA Hogema, BM Gibson, KM Jakobs, C
Citation: Dsm. Schor et al., Development of a stable-isotope dilution assay for gamma-aminobutyric acid(GABA) transaminase in isolated leukocytes and evidence that GABA and beta-alanine transaminases are identical, CLIN CHEM, 47(3), 2001, pp. 525-531
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism
Authors: Gallardo, ME Desviat, LR Rodriguez, JM Esparza-Gordillo, J Perez-Cerda, C Perez, B Rodriguez-Pombo, P Criado, O Sanz, R Morton, DH Gibson, KM Le, TP Ribes, A de Cordoba, SR Ugarte, M Penalva, MA
Citation: Me. Gallardo et al., The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism, AM J HU GEN, 68(2), 2001, pp. 334-346
Haplotype analysis suggests that the two predominant mutations in Japanesepatients with holocarboxylase synthetase deficiency are founder mutations
Authors: Yang, X Aoki, Y Li, X Sakamoto, O Hiratsuka, M Gibson, KM Kure, S Narisawa, K Matsubara, Y Suzuki, Y
Citation: X. Yang et al., Haplotype analysis suggests that the two predominant mutations in Japanesepatients with holocarboxylase synthetase deficiency are founder mutations, J HUM GENET, 45(6), 2000, pp. 358-362
Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi
Authors: Linck, LM Hayflick, SJ Lin, DS Battaile, KP Ginat, S Burlingame, T Gibson, KM Honda, M Honda, A Salen, G Tint, GS Connor, WE Steiner, RD
Citation: Lm. Linck et al., Fetal demise with Smith-Lemli-Opitz syndrome confirmed by tissue sterol analysis and the absence of measurable 7-dehydrocholesterol Delta(7)-reductase activity in chorionic villi, PRENAT DIAG, 20(3), 2000, pp. 238-240
MRI findings in succinic semialdehyde dehydrogenase deficiency
Authors: Yalcinkaya, C Gibson, KM Gunduz, E Kocer, N Ficicioglu, C Kucukercan, I
Citation: C. Yalcinkaya et al., MRI findings in succinic semialdehyde dehydrogenase deficiency, NEUROPEDIAT, 31(1), 2000, pp. 45-46
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
Authors: Chambliss, KL Gray, RGF Rylance, G Pollitt, RJ Gibson, KM
Citation: Kl. Chambliss et al., Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency, J INH MET D, 23(5), 2000, pp. 497-504
3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign
Authors: Ensenauer, R Muller, CB Schwab, KO Gibson, KM Brandis, M Lehnert, W
Citation: R. Ensenauer et al., 3-Methylglutaconyl-CoA hydratase deficiency: A new patient with speech retardation as the leading sign, J INH MET D, 23(4), 2000, pp. 341-344
The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface
Authors: Cerone, R Caruso, U Besley, GTN Pollitt, RJ Brown, GK Hoffmann, GF Gibson, KM
Citation: R. Cerone et al., The 37th Annual Symposium of the SSIEM - Genova 1999 - Preface, J INH MET D, 23(3), 2000, pp. 195-196
Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis
Authors: Steiner, RD Whyte, MP Chang, E Hanks, J Mattes, C Senephansiri, H Gibson, KM
Citation: Rd. Steiner et al., Increased urine heparan and chondroitin sulphate excretion in patients with osteopetrosis, J INH MET D, 23(1), 2000, pp. 88-90
Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism
Authors: Gibson, KM Ugarte, M Fukao, T Mitchell, GA
Citation: Km. Gibson et al., Molecular and enzymatic methods for detection of genetic defects in distalpathways of branched-chain amino acid metabolism, METH ENZYM, 324, 2000, pp. 432-453
Genetic predisposition to neural tube defects?
Authors: Gibson, KM Bottiglieri, T
Citation: Km. Gibson et T. Bottiglieri, Genetic predisposition to neural tube defects?, PEDIAT RES, 48(2), 2000, pp. 135-135
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism
Authors: Gibson, KM Burlingame, TG Hogema, B Jakobs, C Schutgens, RBH Millington, D Roe, CR Roe, DS Sweetman, L Steiner, RD Linck, L Pohowalla, P Sacks, M Kiss, D Rinaldo, P Vockley, J
Citation: Km. Gibson et al., 2-Methylbutyryl-coenzyme A dehydrogenase deficiency: A new inborn error ofL-isoleucine metabolism, PEDIAT RES, 47(6), 2000, pp. 830-833
Cholesterol synthesis and skeletal formation
Authors: Gibson, KM
Citation: Km. Gibson, Cholesterol synthesis and skeletal formation, PEDIAT RES, 47(3), 2000, pp. 289-289
Treatment and survival study in the C57BL/6J-APC(Min)/+ (Min) mouse with R-flurbiprofen
Authors: Wechter, WJ Murray, ED Kantoci, D Quiggle, DD Leipold, DD Gibson, KM McCracken, JD
Citation: Wj. Wechter et al., Treatment and survival study in the C57BL/6J-APC(Min)/+ (Min) mouse with R-flurbiprofen, LIFE SCI, 66(8), 2000, pp. 745-753
Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
Authors: Houten, SM Romeijn, GJ Koster, J Gray, RGF Darbyshire, P Smit, GPA de Klerk, JBC Duran, M Gibson, KM Wanders, RJA Waterham, HR
Citation: Sm. Houten et al., Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis, HUM MOL GEN, 8(8), 1999, pp. 1523-1528
Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrationsand malonyl-CoA decarboxylase activity in fibroblasts
Authors: O'Brien, DP Barshop, BA Faunt, KK Johnson, GC Gibson, KM Shelton, GD
Citation: Dp. O'Brien et al., Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrationsand malonyl-CoA decarboxylase activity in fibroblasts, J INH MET D, 22(8), 1999, pp. 883-890
3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
Authors: Di Rocco, M Caruso, U Moroni, I Lupino, S Lamantea, E Fantasia, AR Borrone, C Gibson, KM
Citation: M. Di Rocco et al., 3-methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease, J INH MET D, 22(5), 1999, pp. 593-A598
4-aminobutyrate aminotransferase (GABA-transaminase) deficiency
Authors: Medina-Kauwe, LK Tobin, AJ De Meirleir, L Jaeken, J Jakobs, C Nyhan, WL Gibson, KM
Citation: Lk. Medina-kauwe et al., 4-aminobutyrate aminotransferase (GABA-transaminase) deficiency, J INH MET D, 22(4), 1999, pp. 414-427
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency
Authors: Sakamoto, O Suzuki, Y Li, X Aoki, Y Hiratsuka, M Suormala, T Baumgartner, ER Gibson, KM Narisawa, K
Citation: O. Sakamoto et al., Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency, PEDIAT RES, 46(6), 1999, pp. 671-676
Risultati: 1-25 | 26-29