Authors:
MacMullen, C
Fang, J
Hsu, BYL
Kelly, A
de Lonlay-Debeney, P
Saudubray, JM
Ganguly, A
Smith, TJ
Stanley, CA
Citation: C. Macmullen et al., Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase, J CLIN END, 86(4), 2001, pp. 1782-1787
Authors:
Benit, P
Chretien, D
Kadhom, N
de Lonlay-Debeney, P
Cormier-Daire, V
Cabral, A
Peudenier, S
Rustin, P
Munnich, A
Rotig, A
Citation: P. Benit et al., Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency, AM J HU GEN, 68(6), 2001, pp. 1344-1352
Authors:
de Lonlay-Debeney, P
von Kleist-Retzow, JC
Hertz-Pannier, L
Peudenier, S
Cormier-Daire, V
Berquin, P
Chretien, D
Rotig, A
Saudubray, JM
Baraton, J
Brunelle, F
Rustin, P
Van der Knaap, M
Munnich, A
Citation: P. De Lonlay-debeney et al., Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency, J PEDIAT, 136(2), 2000, pp. 209-214
Authors:
de Lonlay-Debeney, P
Edery, P
Cormier-Daire, V
Parfait, B
Chretien, D
Rotig, A
Romero, N
Saudubray, JM
Munnich, A
Rustin, P
Citation: P. De Lonlay-debeney et al., Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood, NEUROPEDIAT, 30(1), 1999, pp. 42-44
Authors:
de Lonlay-Debeney, P
Poggi-Travert, F
Fournet, JC
Sempoux, C
Vici, CD
Brunelle, F
Touati, G
Rahier, J
Junien, C
Nihoul-Fekete, C
Robert, JJ
Saudubray, JM
Citation: P. De Lonlay-debeney et al., Clinical features of 52 neonates with hyperinsulinism, N ENG J MED, 340(15), 1999, pp. 1169-1175
Authors:
de Lonlay-Debeney, P
Fournet, JC
Martin, D
Poggi, F
Vicci, CD
Spada, M
Touati, G
Rahier, J
Brunelle, F
Junien, C
Robert, JJ
Nihoul-Fekete, C
Saudubray, JM
Citation: P. De Lonlay-debeney et al., Persistent hypoglycaemia due to hyperinsulinism in newborns and infants., ARCH PED, 5(12), 1998, pp. 1347-1352