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Results: 1-8 |
Results: 8
Non-concordance of CVS and liver glycine cleavage enzyme in three familieswith non-ketotic hyperglycinaemia (NKH) leading to false negative prenataldiagnoses
Authors: Applegarth, DA Toone, JR Rolland, MO Black, SH Yim, DKC Bemis, G
Citation: Da. Applegarth et al., Non-concordance of CVS and liver glycine cleavage enzyme in three familieswith non-ketotic hyperglycinaemia (NKH) leading to false negative prenataldiagnoses, PRENAT DIAG, 20(5), 2000, pp. 367-370
A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
Authors: Renom, G Fontaine, M Rolland, MO Duprey, J Degand, PM Dobbelaere, D
Citation: G. Renom et al., A new case of 2-methylacetoacetyl-CoA thiolase deficiency?, J INH MET D, 23(7), 2000, pp. 751-753
Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia
Authors: Neuberger, JM Schweitzer, S Rolland, MO Burghard, R
Citation: Jm. Neuberger et al., Effect of sodium benzoate in the treatment of atypical nonketotic hyperglycinaemia, J INH MET D, 23(1), 2000, pp. 22-26
Combined liver kidney transplantation in primary hyperoxaluria type 1
Authors: Cochat, P Gaulier, JM Nogueira, PCK Feber, J Jamieson, NV Rolland, MO Divry, P Bozon, D Dubourg, L
Citation: P. Cochat et al., Combined liver kidney transplantation in primary hyperoxaluria type 1, EUR J PED, 158, 1999, pp. S75-S80
Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations
Authors: Kure, S Rolland, MO Leisti, J Mandel, H Sakata, Y Tada, K Matsubara, Y Narisawa, K
Citation: S. Kure et al., Prenatal diagnosis of non-ketotic hyperglycinaemia: Enzymatic diagnosis in28 families and DNA diagnosis detecting prevalent Finnish and Israeli-Arabmutations, PRENAT DIAG, 19(8), 1999, pp. 717-720
Primary hyperoxaluria in infants: Medical, ethical, and economic issues
Authors: Cochat, P Nogueira, PCK Mahmoud, MA Jamieson, NV Scheinman, JI Rolland, MO
Citation: P. Cochat et al., Primary hyperoxaluria in infants: Medical, ethical, and economic issues, J PEDIAT, 135(6), 1999, pp. 746-750
Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562
Authors: Dumontet, C Fabianowska-Majewska, K Mantincic, D Bauchu, EC Tigaud, I Gandhi, V Lepoivre, M Peters, GJ Rolland, MO Wyczechowska, D Fang, X Gazzo, S Voorn, DA Vanier-Viornery, A Mackey, J
Citation: C. Dumontet et al., Common resistance mechanisms to deoxynucleoside analogues in variants of the human erythroleukaemic line K562, BR J HAEM, 106(1), 1999, pp. 78-85
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry
Authors: Hinson, DD Ross, RM Krisans, S Shaw, JL Kozich, V Rolland, MO Divry, P Mancini, J Hoffmann, GF Gibson, KM
Citation: Dd. Hinson et al., Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry, AM J HU GEN, 65(2), 1999, pp. 327-335
Risultati: 1-8 |