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Results: 1-3 |
Results: 3
Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R)
Authors: Burwinkel, B Tanner, MS Kilimann, MW
Citation: B. Burwinkel et al., Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R), J MED GENET, 37(5), 2000, pp. 376-377
A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renalglycogenosis with Fanconi syndrome and low phosphorylase kinase activity
Authors: Burwinkel, B Sanjad, SA Al-Sabban, E Al-Abbad, A Kilimann, MW
Citation: B. Burwinkel et al., A mutation in GLUT2, not in phosphorylase kinase subunits, in hepato-renalglycogenosis with Fanconi syndrome and low phosphorylase kinase activity, HUM GENET, 105(3), 1999, pp. 240-243
Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality
Authors: Burwinkel, B Kreuder, J Schweitzer, S Vorgerd, M Gempel, K Gerbitz, KD Kilimann, MW
Citation: B. Burwinkel et al., Carnitine transporter OCTN2 mutations in systemic primary carnitine deficiency: A novel Arg169Gln mutation and a recurrent Arg282ter mutation associated with an unconventional splicing abnormality, BIOC BIOP R, 261(2), 1999, pp. 484-487
Risultati: 1-3 |