IRIS

CERONE, ROBERTO

CERONE, ROBERTO  

100009 - Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno-Infantili  

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A spectrum of LMX1B mutations in Nail-Patella syndrome: New point mutations, deletion, and evidence of mosaicism in unaffected parents 1-gen-2010 Marini, M; Bocciardi, R; Gimelli, S; DI DUCA, M; Divizia, Mt; Baban, A; Gaspar, H; Mammi, I; Garavelli, L; Cerone, R; Emma, F; Bedeschi, Mf; Tenconi, R; Sensi, A; Salmaggi, A; Bengala, M; Mari, F; Colussi, G; Szczaluba, K; Antonarakis, Se; Seri, M; Lerone, M; Ravazzolo, R.
Clinical presentation and outcome in a series of 88 patients with the cblC defect. 1-gen-2014 Fischer, S; Huemer, M; Baumgartner, M; Deodato, F; Ballhausen, D; Boneh, A; Burlina, Ab; Cerone, Roberto; Garcia, P; Gökçay, G; Grünewald, S; Häberle, J; Jaeken, J; Ketteridge, D; Lindner, M; Mandel, H; Martinelli, D; Martins, Eg; Schwab, Ko; Gruenert, Sc; Schwahn, Bc; Sztriha, L; Tomaske, M; Trefz, F; Vilarinho, L; Rosenblatt, Ds; Fowler, B; Dionisi Vici, C.
Cobalamin (Cbl)C/D deficiency: clinical, neurophysiological and neuroradiologic finding in 14 cases 1-gen-2001 Biancheri, R.; Cerone, Roberto; Schiaffino, Mc; Caruso, U; Veneselli, EDVIGE MARIA; Perrone, Mv; Rossi, A; Gatti, R.
Common criteria among States for storage and use of dried blood spot specimens after newborn screening 1-gen-2012 Petrini, Carlo; Olivieri, Antonella; Corbetta, Carlo; Cerone, Roberto; D'Agnolo, Giuliano; Bompiani, Adriano
Determination of plasma homocysteine by high performance liquid chromatography 1-gen-1998 Minniti, G; Piana, Antonietta; Armani, U; Cerone, Roberto
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. 1-gen-2002 Biancheri, R.; Cerone, Roberto; Rossi, A.; Schiaffino, M. C.; Caruso, U.; Minniti, G.; Perrone, M. V.; TORTORI DONATI, P.; Veneselli, EDVIGE MARIA
EARLY-ONSET COMBINED METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA: NEURORADIOLOGICAL FINDINGS 1-gen-2001 Rossi, A; Cerone, Roberto; Biancheri, R; Gatti, R; Schiaffino, Mc; Fonda, C; Zammarchi, E; TORTORI DONATI, P.
Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis. 1-gen-2007 Verrina, E; Caruso, U; Calevo, Mg; Emma, F; Sorino, P; DE PALO, T; Lavoratti, G; TURRINI DERTENOIS, L; Cassanello, M; Cerone, Roberto; Perfumo, F.
Eight new mutations of phenylalanine hydroxilase gene in italian patients with hyperphenylalaninemia 1-gen-1998 Bosco, P; Cali'F, ; Meli, C; Mollica, F; Zammarchi, E.; Cerone, Roberto; Vanni, C; Palillo, L; Greco, D; Romano, V.
Fumarate hydratase deficiency. 1-gen-1998 Bonioli, Eugenio; Nulla, nullDi Stefano; Peri, V.; Caruso, U.; Cerone, Roberto; Lamantea, E.; Taroni, F.; Bellini, C.
Genotype-phenotype correlation in dihydropteridine reductase deficiency 1-gen-2000 L., DE SANCTIS; C., Alliaudi; M., Spada; R., Farrugia; Cerone, Roberto; G., Biasucci; C., Meli; E., Zammarchi; T., Coskun; N., Blau; A., Ponzone; I., Dianzani
Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia 1-gen-2001 Mud, Sh; Cerone, Roberto; Schiaffino, Mc; Fantasia, Ar; Minniti, G; Caruso, U; Lorini, RENATA GIUSEPPINA; 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.
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency 1-gen-2017 Huemer, Martina; Diodato, Daria; Schwahn, Bernd; Schiff, Manuel; Bandeira, Anabela; Benoist, Jean Francois; Burlina, Alberto; Cerone, Roberto; Couce, Maria L.; Garcia Cazorla, Angeles; la Marca, Giancarlo; Pasquini, Elisabetta; Vilarinho, Laura; Weisfeld Adams, James D.; Kožich, Viktor; Blom, Henk; Baumgartner, Matthias R.; Dionisi Vici, Carlo
Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure 1-gen-2003 A., Canepa; A., Carrea; G., Caridi; L., Dertenois; G., Minniti; Cerone, Roberto; S., Canini; Mg, Calevo; F., Perfumo
Homocysteine, reactive oxygen species and nitric oxide in type 2 diabetes mellitus 1-gen-2007 Signorello, MARIA GRAZIA; Viviani, GIORGIO LUCIANO; Armani, Ugo; Cerone, Roberto; Minniti, G.; Piana, Antonietta; Leoncini, Giuliana
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient. 1-gen-2004 Schiaffino, Mc; Fantasia, Ar; Minniti, G; Caruso, U; Carnevale, F; Cerone, Roberto
Long-term follow-up and outcome of phenylketonuria patients on sapropterin: A retrospective study 1-gen-2013 Keil, Stefanie; Anjema, Karen; Van Spronsen, Francjan J.; Lambruschini, Nilo; Burlina, Alberto; Bélanger Quintana, Amaya; Couce, Maria L.; Feillet, Francois; Cerone, Roberto; Lotz Havla, Amelie S.; Muntau, Ania C.; Bosch, Annet M.; Meli, Concetta A. P.; De Villemeur, Thierry Billette; Kern, Ilse; Riva, Enrica; Giovannini, Marcello; Damaj, Lena; Leuzzi, Vincenzo; Blau, Nenad
Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria. 1-gen-2004 Cerone, Roberto; Schiaffino, Mc; Fantasia, Ar; Perfumo, M; BIRK MOLLER, L; Blau, N.
Low total plasma homocysteine concentrations in patients with type 1 diabetes 1-gen-2001 Cotellessa, Mario; Minniti, G; Cerone, Roberto; Prigione, F; Calevo, Mg; Lorini, RENATA GIUSEPPINA
Management of phenylketonuria in Europe: survey results from 19 countries. 1-gen-2010 Blau, N; Bélanger Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; Macdonald, A; Trefz, Fk; van Spronsen, F; Cerone, Roberto; European PKU, Centers