Pubblicazioni

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

2017 - ORPHANET JOURNAL OF RARE DISEASES
Wassenberg, Tessa; Molero Luis, Marta; Jeltsch, Kathrin; Hoffmann, Georg F.; Assmann, Birgit; Blau, Nenad; Garcia Cazorla, Angeles; Artuch, Rafael; Pons, Roser; Pearson, Toni S.; Leuzzi, Vincenco; Mastrangelo, Mario; Pearl, Phillip L.; Lee, Wang Tso; Kurian, Manju A.; Heales, Simon; Flint, Lisa; Verbeek, Marcel; Willemsen, Michèl; Opladen, Thomas

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

2017 - ORPHANET JOURNAL OF RARE DISEASES
Muntau, Ac; Burlina, A; Eyskens, F; Freisinger, P; De Laet, C; Leuzzi, Vincenzo; Rutsch, F; Sivri, Hs; Vijay, S; Bal, Mo; Gramer, G; Pazdírková, R; Cleary, M; Lotz Havla, As; Munafo, A; Mould, Dr; Moreau Stucker, F; Rogoff, D.

ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T

2017 - ORPHANET JOURNAL OF RARE DISEASES
Menotta, Michele; Biagiotti, Sara; Spapperi, Chiara; Orazi, Sara; Rossi, Luigia; Chessa, Luciana; Leuzzi, Vincenzo; D'Agnano, Daniela; Soresina, Annarosa; Micheli, Roberto; Magnani, Mauro

The complete European guidelines on phenylketonuria: diagnosis and treatment

2017 - ORPHANET JOURNAL OF RARE DISEASES
Van Wegberg, A. M. J.; MacDonald, A.; Ahring, K.; Bélanger-Quintana, A.; Blau, N.; Bosch, A. M.; Burlina, A.; Campistol, J.; Feillet, F.; Giżewska, M.; Huijbregts, S. C.; Kearney, S.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Van Rijn, M.; Trefz, F.; Walter, J. H.; Van Spronsen, F. J.

Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

2017 - ORPHANET JOURNAL OF RARE DISEASES
Pennisi, Em; Arca, M; Bertini, E; Bruno, C; Cassandrini, D; D'Amico, A; Garibaldi, M; Gragnani, F; Maggi, L; Massa, R; Missaglia, S; Morandi, L; Musumeci, O; Pegoraro, E; Rastelli, E; Santorelli, Fm; Tasca, E; Tavian, D; Toscano, A; Angelini, C

Open issues in mucopolysaccharidosis type I-Hurler

2017 - ORPHANET JOURNAL OF RARE DISEASES
Parini, R.; Deodato, F.; Di Rocco, M.; Lanino, E.; Locatelli, F.; Messina, C.; Rovelli, A.; Scarpa, M.

Open issues in mucopolysaccharidosis type I-hurler

2017 - ORPHANET JOURNAL OF RARE DISEASES
Parini, R.; Deodato, F.; Di Rocco, M.; Lanino, E.; Locatelli, F.; Messina, C.; Rovelli, A.; Scarpa, M.

© Università degli Studi di Roma "La Sapienza" - Piazzale Aldo Moro 5, 00185 Roma