Search Results - "Boot RG"

Human α-galactosidase A is stimulated by folic acid supplementation – possible implications in Fabry disease management.

Authors: Khatoon, Sabiha Junaid, Mohammed A.

Source: PLoS ONE. 6/10/2026, Vol. 21 Issue 6, p1-13. 13p.

Gaucher disease: the hematologist's perspective of a multisystemic disorder.

Authors: Costa A Mulas O Caocci G

Source: Annals of hematology [Ann Hematol] 2026 May 20; Vol. 105 (8). Date of Electronic Publication: 2026 May 20.

Publication Type: Journal Article; Review; Case Reports

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-0584 (Electronic) Linking ISSN: 09395555 NLM ISO Abbreviation: Ann Hematol Subsets: MEDLINE

In silico biophysics and rheology of blood and red blood cells in Gaucher Disease.

Authors: Chai, Zhaojie Li, Guansheng Ndour, Papa Alioune et al.

Source: PLoS Computational Biology. 9/10/2025, Vol. 21 Issue 9, p1-20. 20p.

This result is not displayed to guests.
Login for full access.

Discovery of conformation constrained tetracyclic compounds as potent chitinase OfChi-h inhibitors with a novel binding mode.

Authors: Yuan, Pengtao Jiang, Xi Ni, Xintong et al.

Source: Journal of Enzyme Inhibition & Medicinal Chemistry. Dec2025, Vol. 40 Issue 1, p1-11. 11p.

Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.

Authors: Kilavuz, Sebile Wallom, Kerri-Lee Caçote, Ana Catarina Gomes Almeida Augusto et al.

Source: Orphanet Journal of Rare Diseases. 11/18/2025, Vol. 20 Issue 1, p1-16. 16p.

Deciphering metabolic shifts in Gaucher disease type 1: a multi-omics study.

Authors: Ducatez F Berger MG Pilon C et al.

Source: Journal of molecular medicine (Berlin, Germany) [J Mol Med (Berl)] 2025 Feb; Vol. 103 (2), pp. 187-203. Date of Electronic Publication: 2024 Dec 30.

Publication Type: Journal Article

Journal Info: Publisher: Springer International Country of Publication: Germany NLM ID: 9504370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1440 (Electronic) Linking ISSN: 09462716 NLM ISO Abbreviation: J Mol Med (Berl) Subsets: MEDLINE

Role of Protein Misfolding in Human Kidney Diseases.

Authors: Jaurreteche, Sebastián Brajkovic, María Luana Del Rosal, María Victoria et al.

Source: Biocell. 2026, Vol. 50 Issue 5, p1-30. 30p.

Volume Author index.

Source: FEBS Journal. Dec2009, Vol. 276 Issue 24, p7431-7446. 16p.

The C. elegans gba-3 gene encodes a glucocerebrosidase that exacerbates α-synuclein-mediated impairments in deletion mutants.

Authors: Liu, Ning Li, Rongzhen Huang, Xiaobing et al.

Source: Translational Neurodegeneration. 2/13/2025, Vol. 14 Issue 1, p1-4. 4p.

This result is not displayed to guests.
Login for full access.

French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease.

Authors: Camou, Fabrice Serratrice, Christine Pettazzoni, Magali et al.

Source: Orphanet Journal of Rare Diseases. 10/27/2025, Vol. 20 Issue 1, p1-25. 25p.

Ocular and confocal manifestations of Mainland Chinese with Fabry disease: a cross-sectional controlled study.

Authors: Xu, Yao Chen, Yingjie Fan, Jiali et al.

Source: Orphanet Journal of Rare Diseases. 8/10/2025, Vol. 20 Issue 1, p1-10. 10p.

Glucocerebrosidase deficiency leads to neuropathology via cellular immune activation.

Authors: Vincow, Evelyn S. Thomas, Ruth E. Milstein, Gillian et al.

Source: PLoS Genetics. 11/11/2024, Vol. 20 Issue 11, p1-34. 34p.

Sphingolipidoses: expanding the spectrum of α-synucleinopathies.

Authors: Erskine D Bronowska AK Outeiro TF et al.

Source: Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2026 May; Vol. 133 (5), pp. 809-821. Date of Electronic Publication: 2025 Apr 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 9702341 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-1463 (Electronic) Linking ISSN: 03009564 NLM ISO Abbreviation: J Neural Transm (Vienna) Subsets: MEDLINE

Host gastric corpus microenvironment facilitates Ascaris suum larval hatching and infection in a murine model.

Authors: Wu, Yifan Adeniyi-Ipadeola, Grace Adkins-Threats, Mahliyah et al.

Source: PLoS Neglected Tropical Diseases. 2/7/2024, Vol. 18 Issue 2, p1-15. 15p.

The chemokine receptor CCR8 is not a high-affinity receptor for the human chemokine CCL18.

Authors: Hussain, Khansa Lim, Herman D. Devkota, Shankar Raj et al.

Source: PLoS ONE. 9/11/2024, Vol. 19 Issue 9, p1-20. 20p.

Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.

Authors: Sheth, Jayesh Nair, Aadhira Sheth, Frenny et al.

Source: Orphanet Journal of Rare Diseases. 8/13/2024, Vol. 19 Issue 1, p1-17. 17p.

6-O-alkyl 4-methylumbelliferyl-β-D-glucosides as selective substrates for GBA1 in the discovery of glycosylated sterols.

Authors: Bannink S Bila KO van Weperen J et al.

Source: Journal of lipid research [J Lipid Res] 2024 Nov; Vol. 65 (11), pp. 100670. Date of Electronic Publication: 2024 Oct 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

Plant molecular farming: a promising frontier for orphan drug production.

Authors: Shanmugaraj B Ravi K Baladevan K

Source: Biotechnology letters [Biotechnol Lett] 2025 May 17; Vol. 47 (3), pp. 56. Date of Electronic Publication: 2025 May 17.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: Netherlands NLM ID: 8008051 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-6776 (Electronic) Linking ISSN: 01415492 NLM ISO Abbreviation: Biotechnol Lett Subsets: MEDLINE