| Plasma homocysteine as a risk factor for vascular disease: the European Concerted Action Project IM Graham, LE Daly, HM Refsum, K Robinson, LE Brattström, PM Ueland, ... Jama 277 (22), 1775-1781, 1997 | 3110 | 1997 |
| The natural history of homocystinuria due to cystathionine β-synthase deficiency SH Mudd, F Skovby, HL Levy, KD Pettigrew, B Wilcken, RE Pyeritz, ... American journal of human genetics 37 (1), 1, 1985 | 1853 | 1985 |
| Geographical and ethnic variation of the 677C> T allele of 5, 10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide B Wilcken, F Bamforth, Z Li, H Zhu, A Ritvanen, M Redlund, C Stoll, ... Journal of medical genetics 40 (8), 619-625, 2003 | 655 | 2003 |
| Loss‐of‐function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations YP Goldberg, J MacFarlane, ML MacDonald, J Thompson, MP Dube, ... Clinical genetics 71 (4), 311-319, 2007 | 576 | 2007 |
| Therapeutic goals in the treatment of Gaucher disease GM Pastores, NJ Weinreb, H Aerts, G Andria, TM Cox, M Giralt, ... Seminars in hematology 41, 4-14, 2004 | 564 | 2004 |
| Lysosomal storage diseases: from pathophysiology to therapy G Parenti, G Andria, A Ballabio Annual review of medicine 66 (1), 471-486, 2015 | 481 | 2015 |
| Cystathionine β‐synthase mutations in homocystinuria JP Kraus, M Janošík, V Kožich, R Mandell, V Shih, MP Sperandeo, ... Human Mutation 13 (5), 362-375, 1999 | 419 | 1999 |
| Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency AAM Morris, V Kožich, S Santra, G Andria, TIM Ben-Omran, ... Journal of inherited metabolic disease 40, 49-74, 2017 | 366 | 2017 |
| A cluster of sulfatase genes on Xp22. 3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy B Franco, G Meroni, G Parenti, J Levilliers, L Bernard, M Gebbia, L Cox, ... Cell 81 (1), 15-25, 1995 | 348 | 1995 |
| Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. A Ballabio, B Bardoni, R Carrozzo, G Andria, D Bick, L Campbell, ... Proceedings of the National Academy of Sciences 86 (24), 10001-10005, 1989 | 314 | 1989 |
| The role of the iminosugar N‐butyldeoxynojirimycin (miglustat) in the management of type I (non‐neuronopathic) Gaucher disease: A position statement TM Cox, J Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, ... Journal of inherited metabolic disease 26 (6), 513-526, 2003 | 301 | 2003 |
| SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance G Borsani, MT Bassi, MP Sperandeo, AD Grandi, A Buoninconti, M Riboni, ... nature genetics 21 (3), 297-301, 1999 | 281 | 1999 |
| Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool V Iacobazzi, A Castegna, V Infantino, G Andria Molecular genetics and metabolism 110 (1-2), 25-34, 2013 | 272 | 2013 |
| Guidelines for management of glycogen storage disease type I–European Study on Glycogen Storage Disease Type I (ESGSD I) J Rake, G Visser, P Labrune, JV Leonard, K Ullrich, PG Smit European journal of pediatrics 161, S112-S119, 2002 | 272 | 2002 |
| Pharmacological chaperone therapy: preclinical development, clinical translation, and prospects for the treatment of lysosomal storage disorders G Parenti, G Andria, KJ Valenzano Molecular Therapy 23 (7), 1138-1148, 2015 | 270 | 2015 |
| Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism. G Di Minno, G Davi, M Margaglione, F Cirillo, E Grandone, G Ciabattoni, ... The Journal of clinical investigation 92 (3), 1400-1406, 1993 | 243 | 1993 |
| The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations G Sebastio, MP Sperandeo, M Panico, R de Franchis, JP Kraus, G Andria American journal of human genetics 56 (6), 1324, 1995 | 240 | 1995 |
| Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients NJ Weinreb, MC Aggio, HC Andersson, G Andria, J Charrow, JTR Clarke, ... Seminars in hematology 41, 15-22, 2004 | 231 | 2004 |
| Galactosialidosis A d'Azzo The metabolic and molecular bases of inherited disease, 3811-3826, 2001 | 220 | 2001 |
| Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements GA Grabowski, G Andria, A Baldellou, PE Campbell, J Charrow, IJ Cohen, ... European journal of pediatrics 163, 58-66, 2004 | 207 | 2004 |