Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review
Published 2022 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Global Incidence and Prevalence of Gaucher Disease: A Targeted Literature Review
Authors
Keywords
-
Journal
Journal of Clinical Medicine
Volume 12, Issue 1, Pages 85
Publisher
MDPI AG
Online
2022-12-23
DOI
10.3390/jcm12010085
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Transformative effect of a Humanitarian Program for individuals affected by rare diseases: building support systems and creating local expertise
- (2022) I. C. Verma et al. Orphanet Journal of Rare Diseases
- Newborn screening for Gaucher disease in Japan
- (2022) Takaaki Sawada et al. Molecular Genetics and Metabolism Reports
- Global Epidemiology of Gaucher Disease: an Updated Systematic Review and Meta-analysis
- (2022) Meimei Wang et al. JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
- Gaucher disease: Identification and novel variants in Mexican and Spanish patients
- (2021) Raúl Silva García et al. ARCHIVES OF MEDICAL RESEARCH
- The future of newborn screening for lysosomal disorders
- (2021) Melissa P. Wasserstein et al. NEUROSCIENCE LETTERS
- The Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS): Evaluation of a prototype in Finnish Gaucher disease patients and feasibility of screening retrospective electronic health record data for the recognition of potential undiagnosed patients in Finland
- (2021) Markku J. Savolainen et al. Molecular Genetics and Metabolism Reports
- Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients
- (2021) Tim Phetthong et al. Orphanet Journal of Rare Diseases
- High incidence of Gaucher disease in northeast Italy: Results from lysosomal newborn screening
- (2020) Alberto Burlina et al. MOLECULAR GENETICS AND METABOLISM
- Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns
- (2020) Yin-Hsiu Chien et al. Orphanet Journal of Rare Diseases
- Population-based cohort of 500 patients with Gaucher disease in Israel
- (2019) Dena H Jaffe et al. BMJ Open
- Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns
- (2018) David Millington et al. EXPERT REVIEW OF MOLECULAR DIAGNOSTICS
- The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
- (2018) Melissa P. Wasserstein et al. GENETICS IN MEDICINE
- Lysosomal storage diseases
- (2018) Frances M. Platt et al. Nature Reviews Disease Primers
- A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
- (2017) Jérôme Stirnemann et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Successful newborn screening for Gaucher disease using fluorometric assay in China
- (2017) Lulu Kang et al. JOURNAL OF HUMAN GENETICS
- Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy
- (2017) Alberto B. Burlina et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
- (2017) Barbara K. Burton et al. JOURNAL OF PEDIATRICS
- Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians
- (2017) Atul Mehta et al. MOLECULAR GENETICS AND METABOLISM
- Impact of education and the facilitation of carrier screening in a population at increased risk for lysosomal diseases
- (2017) Karen A. Grinzaid MOLECULAR GENETICS AND METABOLISM
- State-wide newborn screening for four lysosomal diseases reveals high incidence rate for Pompe and Fabry diseases
- (2017) Patrick V. Hopkins et al. MOLECULAR GENETICS AND METABOLISM
- Gaucher disease epidemiology and natural history: a comprehensive review of the literature
- (2016) Luba Nalysnyk et al. Hematology
- The French Gaucher Disease Registry: Clinical characteristics, complications and treatment of 616 patients
- (2016) Jerome Stirnemann et al. MOLECULAR GENETICS AND METABOLISM
- A Population-Based Cohort of Gaucher Disease Patients Identified Using EHR Data
- (2016) DH Jaffe et al. VALUE IN HEALTH
- Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials
- (2015) Derralynn A. Hughes et al. AMERICAN JOURNAL OF HEMATOLOGY
- Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry
- (2015) Gregory A. Grabowski et al. AMERICAN JOURNAL OF HEMATOLOGY
- Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
- (2015) Patrick V. Hopkins et al. JOURNAL OF PEDIATRICS
- Epidemiology of lysosomal storage diseases in Sweden
- (2014) Malin Hult et al. ACTA PAEDIATRICA
- The Relative Frequency of Lysosomal Storage Disorders
- (2014) Srilatha Kadali et al. JOURNAL OF CHILD NEUROLOGY
- The European Gaucher Alliance: a survey of member patient organisations’ activities, healthcare environments and concerns
- (2014) Irena Žnidar et al. Orphanet Journal of Rare Diseases
- Newborn screening for lysosomal storage disorders and other neuronopathic conditions
- (2013) Dietrich Matern et al. Developmental Disabilities Research Reviews
- Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study
- (2012) Derlis E. Gonzalez et al. AMERICAN JOURNAL OF HEMATOLOGY
- Expanding newborn screening for lysosomal disorders: Opportunities and challenges
- (2012) Darrel J. Waggoner et al. Developmental Disabilities Research Reviews
- Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria
- (2012) Thomas P Mechtler et al. LANCET
- A Pilot Newborn Screening Program for Lysosomal Storage Disorders (LSD) in Illinois
- (2012) Barbara Burton et al. MOLECULAR GENETICS AND METABOLISM
- Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula
- (2012) Pilar Giraldo et al. Orphanet Journal of Rare Diseases
- A reappraisal of Gaucher disease-diagnosis and disease management algorithms
- (2010) Pramod K. Mistry et al. AMERICAN JOURNAL OF HEMATOLOGY
- Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
- (2009) Pramod K. Mistry et al. BRITISH JOURNAL OF HAEMATOLOGY
- Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
- (2008) Kathleen S. Hruska et al. HUMAN MUTATION
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started