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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Hruska KS, et al. Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Hum Mutat. 2008. PMID: 18338393 Review.
Recombination events with a highly homologous pseudogene downstream of the GBA locus also have been identified, resulting from gene conversion, fusion, or duplication. In this review we discuss the spectrum of GBA mutations and their distribution in the patient popu …
Recombination events with a highly homologous pseudogene downstream of the GBA locus also have been identified, resulting from gene c …
Gaucher disease.
Nagral A. Nagral A. J Clin Exp Hepatol. 2014 Mar;4(1):37-50. doi: 10.1016/j.jceh.2014.02.005. Epub 2014 Apr 21. J Clin Exp Hepatol. 2014. PMID: 25755533 Free PMC article. Review.
There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for mutations are useful for confirming diagnosis, screening family members and prognosticating the disease. ...Monitoring of patients on ERT i …
There is no role for histological examination of the bone marrow, liver or spleen for diagnosis of the disease. Molecular studies for …
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Baris HN, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):72-81. Pediatr Endocrinol Rev. 2014. PMID: 25345088 Free PMC article. Review.
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. The result is widespread accumulation of macrophages engorged with predominantly lysosomal glucocerebroside. A …
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biall …
Human glucocerebrosidase mediates formation of xylosyl-cholesterol by β-xylosidase and transxylosidase reactions.
Boer DE, Mirzaian M, Ferraz MJ, Zwiers KC, Baks MV, Hazeu MD, Ottenhoff R, Marques ARA, Meijer R, Roos JCP, Cox TM, Boot RG, Pannu N, Overkleeft HS, Artola M, Aerts JM. Boer DE, et al. J Lipid Res. 2021;62:100018. doi: 10.1194/jlr.RA120001043. Epub 2021 Jan 6. J Lipid Res. 2021. PMID: 33361282 Free PMC article.
Here we show that recombinant human GBA also cleaves beta-xylosides and transxylosylates cholesterol. The xylosyl-cholesterol formed acts as an acceptor for the subsequent formation of di-xylosyl-cholesterol. Common mutant forms of GBA from patients with Gaucher dis …
Here we show that recombinant human GBA also cleaves beta-xylosides and transxylosylates cholesterol. The xylosyl-cholesterol formed …
Ruxolitinib (Addendum to Commission A15-13) [Internet].
Institute for Quality and Efficiency in Health Care. Institute for Quality and Efficiency in Health Care. Cologne, Germany: Institute for Quality and Efficiency in Health Care (IQWiG); 2015 Sep 10. Extract of Dossier Assessment No. A15-35. Cologne, Germany: Institute for Quality and Efficiency in Health Care (IQWiG); 2015 Sep 10. Extract of Dossier Assessment No. A15-35. PMID: 29144647 Free Books & Documents. Review.
Furthermore, the G-BA commissioned IQWiG to analyse the primary outcome of the RESPONSE study (haematocrit control with absence of phlebotomy eligibility and reduction in spleen volume, as well as its individual components). The responsibility for the present assessment an …
Furthermore, the G-BA commissioned IQWiG to analyse the primary outcome of the RESPONSE study (haematocrit control with absence of phlebotom …
Investigation of novel pharmacological chaperones for Gaucher Disease.
Yilmazer B, Yagci ZB, Bakar E, Ozden B, Ulgen K, Ozkirimli E. Yilmazer B, et al. J Mol Graph Model. 2017 Sep;76:364-378. doi: 10.1016/j.jmgm.2017.07.014. Epub 2017 Jul 20. J Mol Graph Model. 2017. PMID: 28763689
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and ceramide. Mutations in GBA lead to the accumulation of glycosylceramide in the lysosome causing an enlargement of the spleen and t …
Beta-Glucocerebrosidase (GBA) is a lysosomal protein that is responsible for the hydrolysis of glycosylceramide into glucose and cera …
[Pathogenic mechanism and therapies for Gaucher's disease].
Liu LY, Du SC, Zhang J, Ma D. Liu LY, et al. Yi Chuan. 2015 Jun;37(6):510-6. doi: 10.16288/j.yczz.14-459. Yi Chuan. 2015. PMID: 26351046 Review. Chinese.
It results from an autosomal recessive deficiency of the lysosomal enzyme acid beta-glucosidase/ beta-glucocerebrosidase (GBA), which is responsible for hydrolysis of glucocerebroside/glucosylceramide (GlcCer) into glucose and ceramide. Absent or reduced enzymatic activity …
It results from an autosomal recessive deficiency of the lysosomal enzyme acid beta-glucosidase/ beta-glucocerebrosidase (GBA), which …
Osteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center.
Basiri M, Ghaffari ME, Ruan J, Murugesan V, Kleytman N, Belinsky G, Akhavan A, Lischuk A, Guo L, Klinger K, Mistry PK. Basiri M, et al. Elife. 2023 May 30;12:e87537. doi: 10.7554/eLife.87537. Elife. 2023. PMID: 37249220 Free PMC article.
However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not known whether it is related to individual treatments, GBA genotypes, phenotypes, biomarkers of residual disease activity, or anti-drug antibodies. ...CONCLUSIONS: There …
However, there are reports of AVN in patients receiving enzyme replacement therapy (ERT) , and it is not known whether it is related to indi …
Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.
Bremova-Ertl T, Sztatecsny C, Brendel M, Moser M, Möller B, Clevert DA, Beck-Wödl S, Kun-Rodrigues C, Bras J, Rominger A, Ninov D, Strupp M, Schneider SA. Bremova-Ertl T, et al. Neurology. 2020 Apr 21;94(16):e1702-e1715. doi: 10.1212/WNL.0000000000009290. Epub 2020 Mar 31. Neurology. 2020. PMID: 32234823
Video-oculography and abdominal ultrasound with volumetry were performed to assess oculomotor function and size of liver and spleen. NPC biomarkers in blood were analyzed. (18)F-fluorodesoxyglucose PET was performed (n = 16) to detect patterns of brain hypometabolism. ...C …
Video-oculography and abdominal ultrasound with volumetry were performed to assess oculomotor function and size of liver and spleen. …
Gaucher disease type 3c: New patients with unique presentations and review of the literature.
Kurolap A, Del Toro M, Spiegel R, Gutstein A, Shafir G, Cohen IJ, Barrabés JA, Feldman HB. Kurolap A, et al. Mol Genet Metab. 2019 Jun;127(2):138-146. doi: 10.1016/j.ymgme.2019.05.011. Epub 2019 May 21. Mol Genet Metab. 2019. PMID: 31130326 Review.
Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leading to glucocerebrosideaccumulation mainly in the liver, spleen, bone marrow, lungs, and occasionally in the central nervous system. . …
Gaucher disease (GD) is the most prevalent lysosomal disorder caused by GBA mutations and abnormal glucocerebrosidase function, leadi …
32 results