Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks-Reference-Cited by-同舟云学术

Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks

Published:2022-12 Issue: Volume:33 Page:100911
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Pehrsson Minja,Heikkinen Hanna,Wartiovaara-Kautto Ulla,Mäntylahti Sampo,Bäckström Pia,Lassenius Mariann I.,Uusi-Rauva Kristiina,Carpén Olli,Elomaa Kaisa

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference23 articles.

1. Metabolism of glucocerebrosides II. Evidence of an enzymatic deficiency in Gaucher’s disease;Brady;Biochem. Biophys. Res. Commun.,1965

2. Gaucher disease: clinical, biological and therapeutic aspects;Dandana;Pathobiology.,2016

3. A review of Gaucher disease pathophysiology, clinical presentation and treatments;Stirnemann;IJMS.,2017

4. Epidemiology and natural history of Gaucher’s disease;Mehta;Europ. J. Intern. Med.,2006

5. Prevalence of lysosomal storage disorders;Meikle;JAMA.,1999

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3. Assessing the diagnostic utility of the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system using real-world data;Orphanet Journal of Rare Diseases;2024-02-16