Generoso Andria

Overview

Best Publications

• Plasma homocysteine as a risk factor for vascular disease: The European Concerted Action Project.

  Graham Im;Daly Le;Refsum Hm;Robinson K

  3020
  Citations

• The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

  S H Mudd;F Skovby;H L Levy;K D Pettigrew

  1864
  Citations

• 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

  597
  Citations

• Therapeutic goals in the treatment of Gaucher disease

  Gregory M. Pastores;Neal J. Weinreb;Hans Aerts;Generoso Andria

  546
  Citations

• 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

  534
  Citations

• Lysosomal Storage Diseases: From Pathophysiology to Therapy

  Giancarlo Parenti;Generoso Andria;Andrea Ballabio

  424
  Citations

• Cystathionine β‐synthase mutations in homocystinuria

  Jan P. Kraus;Miroslav Janošík;Viktor Kožich;Roseann Mandell

  408
  Citations

• A CLUSTER OF SULFATASE GENES ON XP22.3 : MUTATIONS IN CHONDRODYSPLASIA PUNCTATA (CDPX) AND IMPLICATIONS FOR WARFARIN EMBRYOPATHY

  Brunella Franco;Germana Meroni;Giancarlo Parenti;Jacqueline Levilliers

  330
  Citations

• Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.

  A Ballabio;B Bardoni;R Carrozzo;G Andria

  316
  Citations

• Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

  Andrew A. M. Morris;Viktor Kožich;Saikat Santra;Generoso Andria

  311
  Citations

• The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.

  T. M. Cox;J. M. F. G. Aerts;G. Andria;M. Beck

  298
  Citations

• Plasma Homocysteine as a Risk Factor for Vascular Disease: The European Concerted Action Project

  Ian M. Graham;Leslie E. Daly;Helga M. Refsum;Killian Robinson

  283
  Citations

• SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.

  Giuseppe Borsani;Maria Teresa Bassi;Maria Pia Sperandeo;Alessandro De Grandi

  275
  Citations

• Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

  Vito Iacobazzi;Alessandra Castegna;Vittoria Infantino;Vittoria Infantino;Generoso Andria

  261
  Citations

• Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

  Giancarlo Parenti;Generoso Andria;Kenneth J Valenzano

  243
  Citations

• The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

  G Sebastio;M P Sperandeo;M Panico;R de Franchis

  238
  Citations

• Abnormally high thromboxane biosynthesis in homozygous homocystinuria. Evidence for platelet involvement and probucol-sensitive mechanism.

  G Di Minno;G Davì;M Margaglione;F Cirillo

  235
  Citations

• Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

  Neal J. Weinreb;Mario C. Aggio;Hans C. Andersson;Generoso Andria

  211
  Citations

• Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements

  Gregory A. Grabowski;Generoso Andria;Antonio Baldellou;Pauline E. Campbell

  200
  Citations

• The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts.

  Caterina Porto;Monica Cardone;Federica Fontana;Barbara Rossi

  195
  Citations