Glucocerebrosidase (Gaucher disease)
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference66 articles.
1. Drug-selected coexpression of human glucocerebrosidase and P-glycoprotein using a bicistronic vector.
2. Assignment of the gene coding for human β-glucocerebrosidase to the region q21-q31 of chromosome 1 using monoclonal antibodies
3. Gaucher disease associated with a unique Kphl restriction site: identification of the amino-acid substitution
4. Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.
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1. Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study;Biomedicines;2023-10-22
2. Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression;Molecular Genetics and Metabolism Reports;2022-09
3. A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report;Clinical Case Reports;2022-05
4. Establishment of Cutoff Values for Newborn Screening of Six Lysosomal Storage Disorders by Tandem Mass Spectrometry;Frontiers in Pediatrics;2022-03-28
5. КЛІНІЧНІ ВИПАДКИ ХВОРОБИ ГОШЕ У ДОРОСЛИХ;Здобутки клінічної і експериментальної медицини;2020-01-30
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