A. Fantasia

Long-term follow-up of a patient with mild tetrahydrobiopterin-responsive phenylketonuria.

N. Blau, R. Cerone, L. Birk Møller, 2004, Molecular genetics and metabolism.

An electrogenic amino acid transporter in the apical membrane of cultured human bronchial epithelial cells.

G. Rossi, L. Musante, L. Varesio, 1998, American journal of physiology. Lung cellular and molecular physiology.

An electrogenic amino acid transporter in the apical membrane of cultured human bronchial epithelial cells.

G. Rossi, L. Musante, L. Varesio, 1998, The American journal of physiology.

Combined deficiency of xanthine oxidase and sulphite oxidase due to a deficiency of molybdenum cofactor

G. Minniti, A. Bertola, C. Bellini, 1996, Journal of Inherited Metabolic Disease.

Glycine N-methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia

R. Lorini, R. Rozen, G. Minniti, 2001, Journal of Inherited Metabolic Disease.

Plasma Amino Acids During the First 24 Hours of Life: Feasibility of Early Diagnosis in the Newborn at Risk of Amino Acid Disorders

U. Caruso, R. Cerone, M. Schiaffino, 1989, Journal of Inherited Metabolic Disease.

3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease

E. Lamantea, K. Gibson, U. Caruso, 1999, Journal of Inherited Metabolic Disease.

Pregnancy and tyrosinaemia type II

R. Gatti, R. Cerone, L. Moresco, 2002, Journal of Inherited Metabolic Disease.

Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency

A. Martini, M. Rocco, A. Forlino, 2007, Journal of Inherited Metabolic Disease.