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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 Brattström, PM Ueland, ...
Jama 277 (22), 1775-1781, 1997
30811997
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
6322003
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
5642007
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
5482004
Lysosomal storage diseases: from pathophysiology to therapy
G Parenti, G Andria, A Ballabio
Annual review of medicine 66, 471-486, 2015
4332015
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
3981999
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
3341995
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
3181989
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
3022017
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
2892003
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
2721999
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
2572002
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
2562013
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
2422015
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
2381993
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
2321995
Galactosialidosis
A d'Azzo
The metabolic and molecular bases of inherited disease, 3811-3826, 2001
2212001
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
2122004
Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis
LAJ Kluijtmans, M Den Heijer, PH Reitsma, SG Heil, HJ Blom, ...
Thrombosis and haemostasis 79 (02), 254-258, 1998
2041998
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
1982004
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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