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Results: 1-5 |
Results: 5

Authors: Rutledge, SL Atchison, J Bosshard, NU Steinmann, B
Citation: Sl. Rutledge et al., Case report: liver glycogen synthase deficiency - A cause of ketotic hypoglycemia, PEDIATRICS, 108(2), 2001, pp. 495-497

Authors: Lam, JT Martin, MG Turk, E Hirayama, BA Bosshard, NU Steinmann, B Wright, EM
Citation: Jt. Lam et al., Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects, BBA-MOL BAS, 1453(2), 1999, pp. 297-303

Authors: Janecke, AR Bosshard, NU Mayatepek, E Schulze, A Gitzelmann, R Burchell, A Bartram, CR Janssen, B
Citation: Ar. Janecke et al., Molecular diagnosis of type 1c glycogen storage disease, HUM GENET, 104(3), 1999, pp. 275-277

Authors: Kalaydjieva, L Perez-Lezaun, A Angelicheva, D Onengut, S Dye, D Bosshard, NU Jordanova, A Savov, A Yanakiev, P Kremensky, I Radeva, B Hallmayer, J Markov, A Nedkova, V Tournev, I Aneva, L Gitzelmann, R
Citation: L. Kalaydjieva et al., A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies), AM J HU GEN, 65(5), 1999, pp. 1299-1307

Authors: Aboussad, A Sekarski, N Cotting, J Laurini, R Matthieu, JM Gitzelmann, R Bosshard, NU Steinmann, B Corboz, A Payot, M
Citation: A. Aboussad et al., Glycogenosis type IX due to phosphorylase b-kinase deficiency, with involvement of the heart, liver, and skeletal muscle., ANN PEDIAT, 45(10), 1998, pp. 707-712
Risultati: 1-5 |