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Plasma homocysteine as a risk factor for vascular disease: the European Concerted Action Project
IM Graham, LE Daly, HM Refsum, K Robinson, LE Brattstrm, PM Ueland, ...
Jama 277 (22), 1775-1781, 1997
29901997
A revisit to the natural history of homocystinuria due to cystathionine β-synthase deficiency
F Skovby, M Gaustadnes, SH Mudd
Molecular genetics and metabolism 99 (1), 1-3, 2010
17882010
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
5752003
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
5122004
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
5002007
Cystathionine β‐synthase mutations in homocystinuria
JP Kraus, M Janošk, V Kožich, R Mandell, V Shih, MP Sperandeo, ...
Human mutation 13 (5), 362-375, 1999
3811999
Lysosomal storage diseases: from pathophysiology to therapy
G Parenti, G Andria, A Ballabio
Annual review of medicine 66, 471-486, 2015
3442015
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
3261995
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke
DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
3152001
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
3061989
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
2762003
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
2441999
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
2311993
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
2272013
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
2251995
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 (1), 49-74, 2017
2092017
Galactosialidosis
A d'Azzo
The metabolic and molecular bases of inherited disease, 3811-3826, 2000
2062000
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
1952004
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
1892015
Prevalence and clinical picture of celiac disease in Italian Down syndrome patients: a multicenter study
M Bonamico, P Mariani, HM Danesi, M Crisogianni, P Failla, G Gemme, ...
Journal of pediatric gastroenterology and nutrition 33 (2), 139-143, 2001
1862001
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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