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Glycine N -methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 4, p. 448, doi. 10.1023/A:1010577512912
By:
- Mudd, S.;
- Cerone, R.;
- Schiaffino, M.;
- Fantasia, A.;
- Minniti, G.;
- Caruso, U.;
- Lorini, R.;
- Watkins, D.;
- Matiaszuk, N.;
- Rosenblatt, D.;
- Schwahn, B.;
- Rozen, R.;
- LeGros, L.;
- Kotb, M.;
- Capdevila, A.;
- Luka, Z.;
- Finkelstein, J.;
- Tangerman, A.;
- Stabler, S.;
- Allen, R.
Publication type:
Article
Genotype–phenotype correlation in dihydropteridine reductase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 333, doi. 10.1023/A:1005662710891
By:
- de Sanctis, L.;
- Alliaudi, C.;
- Spada, M.;
- Farrugia, R.;
- Cerone, R.;
- Biasucci, G.;
- Meli, C.;
- Zammarchi, E.;
- Coskun, T.;
- Blau, N.;
- Ponzone, A.;
- Dianzani, I.
Publication type:
Article
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 3, p. 247, doi. 10.1023/A:1005521702298
By:
- Cerone, R.;
- Schiaffino, M.;
- Caruso, U.;
- Lupino, S.;
- Gatti, R.
Publication type:
Article
Fumarate hydratase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1998, v. 21, n. 4, p. 435, doi. 10.1023/A:1005379330187
By:
- Bonioli, E.;
- Di Stefano, A.;
- Peri, V.;
- Caruso, U.;
- Cerone, R.;
- Lamantea, E.;
- Taroni, F.;
- Bellini, C.
Publication type:
Article
Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency.
Published in:
Clinical Genetics, 2010, v. 77, n. 3, p. 249, doi. 10.1111/j.1399-0004.2009.01306.x
By:
- Leuzzi, V.;
- Carducci, Ca.;
- Carducci, Cl.;
- Pozzessere, S.;
- Burlina, A.;
- Cerone, R.;
- Concolino, D.;
- Donati, M. A.;
- Fiori, L.;
- Meli, C.;
- Ponzone, A.;
- Porta, F.;
- Strisciuglio, P.;
- Antonozzi, I.;
- Blau, N.
Publication type:
Article
Tyrosinemia type III: diagnosis and ten-year follow-up.
Published in:
1997
By:
- Cerone, R;
- Holme, E;
- Schiaffino, MC;
- Caruso, U;
- Maritano, L;
- Romano, C;
- Schiaffino, M C
Publication type:
journal article
Severe complex I deficiency in a case of neonatal-onset lactic acidosis and fatal liver failure.
Published in:
1997
By:
- Mazzella, M;
- Cerone, R;
- Bonacci, W;
- Caruso, U;
- Munnich, A;
- Rustin, P;
- Saudubray, JM;
- Romano, C;
- Serra, G;
- Saudubray, J M
Publication type:
journal article
PREVENTION AND SCREENING.
Published in:
Journal of Perinatal Medicine, 1994, v. 22, p. 5
By:
- Cerone, R.;
- Cohen, A.;
- Romano, C.
Publication type:
Article
Metabolic and genetic risk factors for migraine in children.
Published in:
Cephalalgia, 2006, v. 26, n. 6, p. 731, doi. 10.1111/j.1468-2982.2006.01107.x
By:
- Bottini, F.;
- Celle, M. E.;
- Calevo, M. G.;
- Amato, S.;
- Minniti, G.;
- Montaldi, L.;
- Di Pasquale, D.;
- Cerone, R.;
- Veneselli, E.;
- Molinari, A. C.
Publication type:
Article
Low total plasma homocysteine concentrations in patients with type 1 diabetes.
Published in:
2001
By:
- Cotellessa, Mario;
- Minniti, Giuseppe;
- Cerone, Roberto;
- Prigione, Francesca;
- Calevo, Maria Grazia;
- Lorini, Renata;
- Cotellessa, M;
- Minniti, G;
- Cerone, R;
- Prigione, F;
- Calevo, M G;
- Lorini, R
Publication type:
commentary
Isolated sulphite oxidase deficiency: clinical and biochemical features in an Italian patient.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 1, p. 101
By:
- M. C. Schiaffino;
- A. R. Fantasia;
- G. Minniti;
- U. Caruso;
- F. Carnevale;
- R. Cerone
Publication type:
Article
Pregnancy and tyrosinaemia type II.
Published in:
Journal of Inherited Metabolic Disease, 2002, v. 25, n. 4, p. 317, doi. 10.1023/A:1016558510123
By:
- Cerone, R.;
- Fantasia, A.;
- Castellano, E.;
- Moresco, L.;
- Schiaffino, M.;
- Gatti, R.
Publication type:
Article

Found: 12