Authors:
Rossi, A
Cerone, R
Biancheri, R
Gatti, R
Schiaffino, MC
Fonda, C
Zammarchi, E
Tortori-Donati, P
Citation: A. Rossi et al., Early-onset combined methylmalonic aciduria and homocystinuria: Neuroradiologic findings, AM J NEUROR, 22(3), 2001, pp. 554-563
Authors:
Biancheri, R
Cerone, R
Schiaffino, MC
Caruso, U
Veneselli, E
Perrone, MV
Rossi, A
Gatti, R
Citation: R. Biancheri et al., Cobalamin (Cbl) C/D deficiency: Clinical, neurophysiological and neuroradiologic findings in 14 cases, NEUROPEDIAT, 32(1), 2001, pp. 14-22
Authors:
Mudd, SH
Cerone, R
Schiaffino, MC
Fantasia, AR
Minniti, G
Caruso, U
Lorini, R
Watkins, D
Matiaszuk, N
Rosenblatt, DS
Schwahn, B
Rozen, R
LeGros, L
Kotb, M
Capdevila, A
Luka, Z
Finkelstein, JD
Tangerman, A
Stabler, SP
Allen, RH
Wagner, C
Citation: Sh. Mudd et al., Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia, J INH MET D, 24(4), 2001, pp. 448-464
Authors:
Ruetschi, U
Cerone, R
Perez-Cerda, C
Schiaffino, MC
Standing, S
Ugarte, M
Holme, E
Citation: U. Ruetschi et al., Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III, HUM GENET, 106(6), 2000, pp. 654-662
Authors:
Cerone, R
Schiaffino, MC
Caruso, U
Lupino, S
Gatti, R
Citation: R. Cerone et al., Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism, J INH MET D, 22(3), 1999, pp. 247-250