Associated Papers
Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report.
Keikhaei B et al.
Journal of Medical Case Reports, 2024
Insights into the Value of Lyso-Gb1 as a Predictive Biomarker in Treatment-Naïve Patients with Gaucher Disease Type 1 in the LYSO-PROOF Study.
Curado F et al.
Diagnostics (basel, Switzerland), 2023
37685353 (PubMed )
Supplement: diagnostics-13-02812-s001.zip › diagnostics-2530284-supplementary.pdf
Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.
Du X et al.
Medicine, 2018
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
Barkhuizen M et al.
Neurochemistry International, 2016
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.
Machaczka M et al.
Annals of Hematology, 2014
Clinical utility of different bone marrow examination methods in the diagnosis of adults with sporadic Gaucher disease type 1.
Machaczka M et al.
Polskie Archiwum Medycyny Wewnetrznej, 2014
Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution.
Machaczka M et al.
Upsala Journal of Medical Sciences, 2012
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