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Results: 1-20 |
Results: 20
ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations
Authors: Kemp, S Pujol, A Waterham, HR van Geel, BM Boehm, CD Raymond, GV Cutting, GR Wanders, RJA Hugo, HW
Citation: S. Kemp et al., ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations, HUM MUTAT, 18(6), 2001, pp. 499-515
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
Authors: Bezman, L Moser, AB Raymond, GV Rinaldo, P Watkins, PA Smith, KD Kass, NE Moser, HW
Citation: L. Bezman et al., Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening, ANN NEUROL, 49(4), 2001, pp. 512-517
Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy
Authors: van Geel, BM Bezman, L Loes, DJ Moser, HW Raymond, GV
Citation: Bm. Van Geel et al., Evolution of phenotypes in adult male patients with X-linked adrenoleukodystrophy, ANN NEUROL, 49(2), 2001, pp. 186-194
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser
Authors: Hoover-Fong, JE Geraghty, MT Raymond, GV Thomas, GH
Citation: Je. Hoover-fong et al., Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser, J INH MET D, 24(3), 2001, pp. 415-416
L-2-hydroxyglutaric aciduria presenting as migraine
Authors: Kossoff, EH Keswani, SC Raymond, GV
Citation: Eh. Kossoff et al., L-2-hydroxyglutaric aciduria presenting as migraine, NEUROLOGY, 57(9), 2001, pp. 1731-1732
Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy
Authors: Ito, R Melhem, ER Mori, S Eichler, FS Raymond, GV Moser, HW
Citation: R. Ito et al., Diffusion tensor brain MR imaging in X-linked cerebral adrenoleukodystrophy, NEUROLOGY, 56(4), 2001, pp. 544-547
Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts
Authors: Williard, DE Nwankwo, JO Kaduce, TL Harmon, SD Irons, M Moser, HW Raymond, GV Spector, AA
Citation: De. Williard et al., Identification of a fatty acid Delta(6)-desaturase deficiency in human skin fibroblasts, J LIPID RES, 42(4), 2001, pp. 501-508
MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If
Authors: Schenk, B Imbach, T Frank, CG Grubenmann, CE Raymond, GV Hurvitz, H Raas-Rotschild, A Luder, AS Jaeken, J Berger, EG Matthijs, G Hennet, T Aebi, M
Citation: B. Schenk et al., MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If, J CLIN INV, 108(11), 2001, pp. 1687-1695
Docosahexaenoic acid therapy for disorders of peroxisome biogenesis
Authors: Moser, HW Raymond, GV
Citation: Hw. Moser et Gv. Raymond, Docosahexaenoic acid therapy for disorders of peroxisome biogenesis, NUTR HLTH, 2001, pp. 257-271
X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging inpredicting disease progression
Authors: Melhem, ER Loes, DJ Georgiades, CS Raymond, GV Moser, HW
Citation: Er. Melhem et al., X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging inpredicting disease progression, AM J NEUROR, 21(5), 2000, pp. 839-844
Acute presentation of childhood adrenoleukodystrophy
Authors: Stephenson, DJ Bezman, L Raymond, GV
Citation: Dj. Stephenson et al., Acute presentation of childhood adrenoleukodystrophy, NEUROPEDIAT, 31(6), 2000, pp. 293-297
X-linked adrenoleukodystrophy: Overview and prognosis as a function of ageand brain magnetic resonance imaging abnormality. A study involving 372 patients
Authors: Moser, HW Loes, DJ Melhem, ER Raymond, GV Bezman, L Cox, CS Lu, SE
Citation: Hw. Moser et al., X-linked adrenoleukodystrophy: Overview and prognosis as a function of ageand brain magnetic resonance imaging abnormality. A study involving 372 patients, NEUROPEDIAT, 31(5), 2000, pp. 227-239
Severe phenotypes associated with inactive ring X chromosomes
Authors: Migeon, BR Ausems, M Giltay, J Hasley-Royster, C Kazi, E Lydon, TJ Engelen, JJM Raymond, GV
Citation: Br. Migeon et al., Severe phenotypes associated with inactive ring X chromosomes, AM J MED G, 93(1), 2000, pp. 52-57
Mental retardation and seizure disorder in schimke immunoosseous dysplasia
Authors: Sigurdardottir, S Myers, SM Woodworth, JM Raymond, GV
Citation: S. Sigurdardottir et al., Mental retardation and seizure disorder in schimke immunoosseous dysplasia, AM J MED G, 90(4), 2000, pp. 294-298
Therapy of X-linked adrenoleukodystrophy: Prognosis based upon age and MRIabnormality and plans for placebo-controlled trials
Authors: Moser, HW Bezman, L Lu, SE Raymond, GV
Citation: Hw. Moser et al., Therapy of X-linked adrenoleukodystrophy: Prognosis based upon age and MRIabnormality and plans for placebo-controlled trials, J INH MET D, 23(3), 2000, pp. 273-277
Cryptic subtelomeric translocations in the 22q13 deletion syndrome
Authors: Praphanphoj, V Goodman, BK Thomas, GH Raymond, GV
Citation: V. Praphanphoj et al., Cryptic subtelomeric translocations in the 22q13 deletion syndrome, J MED GENET, 37(1), 2000, pp. 58-61
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls
Authors: Moser, AB Kreiter, N Bezman, L Lu, SE Raymond, GV Naidu, S Moser, HW
Citation: Ab. Moser et al., Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls, ANN NEUROL, 45(1), 1999, pp. 100-110
Plasma and red blood cell fatty acids in peroxisomal disorders
Authors: Moser, AB Jones, DS Raymond, GV Moser, HW
Citation: Ab. Moser et al., Plasma and red blood cell fatty acids in peroxisomal disorders, NEUROCHEM R, 24(2), 1999, pp. 187-197
X-linked adrenoleukodystrophy in children: Review of genetic, clinical, and MR imaging characteristics
Authors: Melhem, ER Barker, PB Raymond, GV Moser, HW
Citation: Er. Melhem et al., X-linked adrenoleukodystrophy in children: Review of genetic, clinical, and MR imaging characteristics, AM J ROENTG, 173(6), 1999, pp. 1575-1581
Adrenoleukodystrophy associated with vitiligo and ulcerative colitis
Authors: Sawaya, RA Mourad, FH Najjar, S Mikati, M Raymond, GV
Citation: Ra. Sawaya et al., Adrenoleukodystrophy associated with vitiligo and ulcerative colitis, EUR NEUROL, 42(3), 1999, pp. 169-172
Risultati: 1-20 |