Authors:
de Lonlay, P
Seta, N
Barrot, S
Chabrol, B
Drouin, V
Gabriel, BM
Journel, H
Kretz, M
Laurent, J
Le Merrer, M
Leroy, A
Pedespan, D
Sarda, P
Villeneuve, N
Schmitz, J
van Schaftingen, E
Matthijs, G
Jaeken, J
Korner, C
Munnich, A
Saudubray, JM
Cormier-Daire, V
Citation: P. De Lonlay et al., A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases, J MED GENET, 38(1), 2001, pp. 14-19
Authors:
Dupre, T
Cuer, M
Barrot, S
Barnier, A
Cormier-Daire, V
Munnich, A
Durand, G
Seta, N
Citation: T. Dupre et al., Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern, CLIN CHEM, 47(1), 2001, pp. 132-134
Authors:
Cuer, M
Barrot, S
Jaureguy, F
Manene, D
Durand, G
Le Moel, G
Citation: M. Cuer et al., The plasma homocysteine/creatinine ratio can be used to study the implication of (C677T) MTHFR genetic variants in homocysteine homeostasis, CLIN CHEM, 45(8), 1999, pp. 1312-1312