First pilot newborn screening for four lysosomal storage diseases in an Italian region: identification and analysis of a putative causative mutation in the GBA gene.

[1]  M. Gelb,et al.  Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders. , 2012, Clinica chimica acta; international journal of clinical chemistry.

[2]  G. Grabowski,et al.  Is E326K glucocerebrosidase a polymorphic or pathological variant? , 2012, Molecular genetics and metabolism.

[3]  C. Angelini,et al.  Enzyme Replacement Therapy for Pompe Disease , 2012, Current Neurology and Neuroscience Reports.

[4]  Thomas P. Mechtler,et al.  Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria , 2012, The Lancet.

[5]  M. Horowitz,et al.  The enigma of the E326K mutation in acid β-glucocerebrosidase. , 2011, Molecular genetics and metabolism.

[6]  Stefan Timmermans,et al.  Patients-in-Waiting , 2010, Journal of health and social behavior.

[7]  Y. Chien,et al.  Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry. , 2010, Clinica chimica acta; international journal of clinical chemistry.

[8]  H. Levy,et al.  Newborn screening of lysosomal storage disorders. , 2010, Clinical chemistry.

[9]  Ramakrishna Sista,et al.  Digital microfluidics: a future technology in the newborn screening laboratory? , 2010, Seminars in perinatology.

[10]  A. Singleton,et al.  Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Portugal , 2009, Neurobiology of Aging.

[11]  K. Marder,et al.  Association of glucocerebrosidase mutations with dementia with lewy bodies. , 2009, Archives of neurology.

[12]  W. Hwu,et al.  Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations , 2007, Pediatrics.

[13]  Joel L Sussman,et al.  Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. , 2007, The Journal of biological chemistry.

[14]  Z. Lukacs,et al.  Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients , 2007, Journal of Inherited Metabolic Disease.

[15]  R. Desnick,et al.  High incidence of later-onset fabry disease revealed by newborn screening. , 2006, American journal of human genetics.

[16]  C. Hollak,et al.  Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers. , 2005, Clinica chimica acta; international journal of clinical chemistry.

[17]  Kevin Cowtan,et al.  research papers Acta Crystallographica Section D Biological , 2005 .

[18]  N. Chamoles,et al.  Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. , 2004, Clinica chimica acta; international journal of clinical chemistry.

[19]  Joseph Muenzer,et al.  Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). , 2004, The Journal of pediatrics.

[20]  J. D. den Dunnen,et al.  Standardizing mutation nomenclature: Why bother? , 2003, Human mutation.

[21]  F. Gottrand,et al.  Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria , 2003, Journal of Inherited Metabolic Disease.

[22]  A. Mehta.  Agalsidase alfa: specific treatment for Fabry disease. , 2002, Hospital medicine.

[23]  N. Chamoles,et al.  Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. , 2002, Clinica chimica acta; international journal of clinical chemistry.

[24]  N. Chamoles,et al.  Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards. , 2002, Clinica chimica acta; international journal of clinical chemistry.

[25]  Barry Honig,et al.  Extending the Applicability of the Nonlinear Poisson−Boltzmann Equation: Multiple Dielectric Constants and Multivalent Ions† , 2001 .

[26]  N. Chamoles,et al.  Diagnosis of alpha-L-iduronidase deficiency in dried blood spots on filter paper: the possibility of newborn diagnosis. , 2001, Clinical chemistry.

[27]  J. K. Park,et al.  Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. , 2000, American journal of human genetics.

[28]  P. Meikle,et al.  Prevalence of lysosomal storage disorders. , 1999, JAMA.

[29]  J. M. Aerts,et al.  The Human Chitotriosidase Gene , 1998, The Journal of Biological Chemistry.

[30]  C. Hollak,et al.  Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. , 1994, The Journal of clinical investigation.

[31]  J. Dambrosia,et al.  Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. , 1991, The New England journal of medicine.

[32]  S. Raghavan,et al.  Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease. , 1980, American journal of human genetics.

[33]  M. Vidailhet,et al.  Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. , 2011, Human molecular genetics.

[34]  M. Farrer,et al.  Glucocerebrosidase mutations in diffuse Lewy body disease. , 2011, Parkinsonism & related disorders.

[35]  P. Meikle,et al.  Newborn screening for lysosomal storage disorders. , 1999, The Southeast Asian journal of tropical medicine and public health.