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Results: 1-7 |
Results: 7
Severe infantile axonal neuropathy with respiratory failure
Authors: Wilmshurst, JM Bye, A Rittey, C Adams, C Hahn, AF Ramsay, D Pamphlett, R Pollard, JD Ouvrier, R
Citation: Jm. Wilmshurst et al., Severe infantile axonal neuropathy with respiratory failure, MUSCLE NERV, 24(6), 2001, pp. 760-768
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Authors: Crow, YJ Jackson, AP Roberts, E van Beusekom, E Barth, P Corry, P Ferrie, CD Hamel, BCJ Jayatunga, R Karbani, G Kalmanchey, R Kelemen, A King, M Kumar, R Livingstone, J Massey, R McWilliam, R Meager, A Rittey, C Stephenson, JBP Tolmie, JL Verrips, A Voit, T van Bokhoven, H Brunner, HG Woods, CG
Citation: Yj. Crow et al., Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21, AM J HU GEN, 67(1), 2000, pp. 213-221
The allopurinol load test lacks specificity for primary urea cycle defectsbut may indicate unrecognized mitochondrial disease
Authors: Bonham, JR Guthrie, P Downing, M Allen, JC Tanner, MS Sharrard, M Rittey, C Land, JM Fensom, A O'Neill, D Duley, JA Fairbanks, LD
Citation: Jr. Bonham et al., The allopurinol load test lacks specificity for primary urea cycle defectsbut may indicate unrecognized mitochondrial disease, J INH MET D, 22(2), 1999, pp. 174-184
Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
Authors: Faure, S Bordelais, I Marquette, C Rittey, C Campos-Castello, J Goutieres, F Ponsot, G Weissenbach, J Lebon, P
Citation: S. Faure et al., Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?, CLIN GENET, 56(2), 1999, pp. 149-153
Clinical and laboratory findings in referrals for mitochondrial DNA analysis
Authors: Yanai, S Baxter, P Rittey, C Guthrie, P Bonham, J Tanner, S Heales, S
Citation: S. Yanai et al., Clinical and laboratory findings in referrals for mitochondrial DNA analysis, ARCH DIS CH, 81(5), 1999, pp. 460-460
Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex
Authors: Griffiths, PD Gardner, SA Smith, M Rittey, C Powell, T
Citation: Pd. Griffiths et al., Hemimegalencephaly and focal megalencephaly in tuberous sclerosis complex, AM J NEUROR, 19(10), 1998, pp. 1935-1938
Ornithine transcarbamylase deficiency: A case report
Authors: Martland, T Mbamali, AC Rittey, C Tanner, S Bonham, JR Griffiths, PD
Citation: T. Martland et al., Ornithine transcarbamylase deficiency: A case report, NEUROPEDIAT, 29(6), 1998, pp. 331-332
Risultati: 1-7 |