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G. Andria

Journal of Inherited Metabolic Disease, American Journal of Human Genetics, Clinical Genetics, Seminars in hematology, Annual Review of Medicine, Cell, Proceedings of the National Academy of Sciences of the United States of America, Nature Genetics, Molecular Genetics and Metabolism, Molecular Therapy Show more
12
Role
Title
Level Year L/R
🐜 The natural history of homocystinuria due to cystathionine beta-synthase deficiency.
10 auth. S. Mudd, F. Skovby, H. Levy, Pettigrew Kd, B. Wilcken, Pyeritz Re, ... G. Andria, G. Boers, Bromberg Il, R. Cerone 		10 1985
10
🐜
🐜 Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations
30 auth. Y. Goldberg, J. Macfarlane, M. Macdonald, Jay Thompson, M. Dubé, Maryanne Mattice, R. Fraser, C. Young, Sakiat Hossain, Terry D. Pape, B. Payne, C. Radomski, G. Donaldson, E. Ives, J. Cox, ... HB Younghusband, R. Green, A. Duff, E. Boltshauser, GA Grinspan, JH Dimon, BG Sibley, G. Andria, E. Toscano, J. Kerdraon, D. Bowsher, S. Pimstone, M. Samuels, R. Sherrington, Hayden 		8 2007
8
🐜
🐜 Therapeutic goals in the treatment of Gaucher disease.
9 auth. G. Pastores, N. Weinreb, H. Aerts, G. Andria, T. Cox, M. Giralt, ... G. Grabowski, P. Mistry, A. Tylki-Szymańska 		8 2004
8
🐜
🐬 Lysosomal storage diseases: from pathophysiology to therapy.
G. Parenti, G. Andria, A. Ballabio 		8 2015
8
🐬
🐜 A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy
13 auth. B. Franco, G. Meroni, G. Parenti, J. Levilliers, L. Bernard, M. Gebbia, L. Cox, P. Maroteaux, L. Sheffield, G. Rappold, ... G. Andria, C. Petit, A. Ballabio 		8 1995
8
🐜
🐜 Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.
10 auth. A. Ballabio, B. Bardoni, R. Carrozzo, G. Andria, D. Bick, L. Campbell, ... B. Hamel, M. Ferguson-Smith, G. Gimelli, M. Fraccaro 		8 1989
8
🐜
🐜 Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency
23 auth. A. Morris, V. Kožich, S. Santra, G. Andria, T. Ben-Omran, A. Chakrapani, E. Crushell, M. Henderson, M. Hochuli, M. Huemer, ... M. Janssen, F. Maillot, P. Mayne, J. McNulty, T. Morrison, H. Ogier, S. O'sullivan, M. Pavlíková, I. T. de Almeida, A. Terry, S. Yap, H. Blom, K. Chapman 		8 2016
8
🐜
🐜 Cystathionine β‐synthase mutations in homocystinuria
19 auth. J. Kraus, M. Janošík, V. Kožich, R. Mandell, V. Shih, M. P. Sperandeo, G. Sebastio, R. de Franchis, G. Andria, L. Kluijtmans, ... H. Blom, G. Boers, R. Gordon, P. Kamoun, M. Tsai, W. Kruger, H. Koch, T. Ohura, M. Gaustadnes 		7 1999
7
🐜
🐜 The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
20 auth. T. Cox, J. Aerts, G. Andria, M. Beck, N. Belmatoug, B. Bembi, R. Chertkoff, S. Dahl, D. Elstein, A. Erikson, ... M. Giralt, R. Heitner, C. Hollak, M. Hřebíček, S. Lewis, A. Mehta, G. Pastores, A. Rolfs, M. C. Miranda, A. Zimran 		7 2003
7
🐜
🐜 SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance
12 auth. G. Borsani, M. Bassi, M. P. Sperandeo, A. Grandi, Anna Buoninconti, M. Riboni, ... M. Manzoni, B. Incerti, A. Pepe, G. Andria, A. Ballabio, G. Sebastio 		7 1999
7
🐜
🐢 Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool.
V. Iacobazzi, Alessandra Castegna, V. Infantino, G. Andria 		7 2013
7
🐢
🐬 Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.
G. Parenti, G. Andria, K. Valenzano 		7 2015
7
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