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Gaucher disease: Basic and translational science needs for more complete therapy and management.
Mol Genet Metab. 2021 Feb;132(2):59-75. doi: 10.1016/j.ymgme.2020.12.291. Epub 2020 Dec 29.
2
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.
Mov Disord. 2011 Aug 1;26(9):1593-604. doi: 10.1002/mds.23774. Epub 2011 May 26.
3
Gaucher disease in Tunisia: High frequency of the most common mutations.
Blood Cells Mol Dis. 2009 Sep-Oct;43(2):161-2. doi: 10.1016/j.bcmd.2009.05.004. Epub 2009 Jun 23.
4
Mutations causing Gaucher disease.
Hum Mutat. 1994;3(1):1-11. doi: 10.1002/humu.1380030102.
5
Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
Eur J Hum Genet. 1999 May-Jun;7(4):505-9. doi: 10.1038/sj.ejhg.5200315.
6
The clinical management of Type 2 Gaucher disease.
Mol Genet Metab. 2015 Feb;114(2):110-122. doi: 10.1016/j.ymgme.2014.11.008. Epub 2014 Nov 14.
7
Gaucher disease, a paradigm for single gene defects.
Experientia. 1995 Mar 15;51(3):196-7. doi: 10.1007/BF01931089.
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Gaucher disease in South Africa.
S Afr Med J. 2008 Jan;98(1):11-2.
10
Type 1 Gaucher disease: identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese.
Hum Mutat. 1996;8(3):280-1. doi: 10.1002/(SICI)1098-1004(1996)8:3<280::AID-HUMU15>3.0.CO;2-Z.

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Atypical case of neonatal-onset Gaucher disease type 3b: A case report.
Mol Genet Metab Rep. 2025 Mar 29;43:101211. doi: 10.1016/j.ymgmr.2025.101211. eCollection 2025 Jun.
3
AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease.
Mol Ther Nucleic Acids. 2025 Mar 7;36(2):102506. doi: 10.1016/j.omtn.2025.102506. eCollection 2025 Jun 10.
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Eliglustat substrate reduction therapy in children with Gaucher disease type 1.
Front Pediatr. 2025 Feb 27;13:1543136. doi: 10.3389/fped.2025.1543136. eCollection 2025.
8
In silico biophysics and rheology of blood and red blood cells in Gaucher Disease.
bioRxiv. 2024 Dec 12:2024.12.10.627687. doi: 10.1101/2024.12.10.627687.
9
Organelle communication maintains mitochondrial and endosomal homeostasis during podocyte lipotoxicity.
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Novel insights into the modulation of the voltage-gated potassium channel K1.3 activation gating by membrane ceramides.
J Lipid Res. 2024 Aug;65(8):100596. doi: 10.1016/j.jlr.2024.100596. Epub 2024 Jul 15.

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Mechanisms of bone development and repair.
Nat Rev Mol Cell Biol. 2020 Nov;21(11):696-711. doi: 10.1038/s41580-020-00279-w. Epub 2020 Sep 8.
2
Impact on bone microarchitecture and failure load in a patient with type I Gaucher disease who switched from Imiglucerase to Eliglustat.
Mol Genet Metab Rep. 2020 May 30;24:100606. doi: 10.1016/j.ymgmr.2020.100606. eCollection 2020 Sep.
3
Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.
Neurogenetics. 2020 Jul;21(3):159-167. doi: 10.1007/s10048-020-00607-4. Epub 2020 Mar 26.
4
Glucocerebrosidase: Functions in and Beyond the Lysosome.
J Clin Med. 2020 Mar 9;9(3):736. doi: 10.3390/jcm9030736.
5
Destroy to Rebuild: The Connection Between Bone Tissue Remodeling and Matrix Metalloproteinases.
Front Physiol. 2020 Feb 5;11:47. doi: 10.3389/fphys.2020.00047. eCollection 2020.
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Liver involvement in patients with Gaucher disease types I and III.
Mol Genet Metab Rep. 2020 Jan 7;22:100564. doi: 10.1016/j.ymgmr.2019.100564. eCollection 2020 Mar.
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Molecular Signatures of Neuroinflammation Induced by αSynuclein Aggregates in Microglial Cells.
Front Immunol. 2020 Jan 31;11:33. doi: 10.3389/fimmu.2020.00033. eCollection 2020.
8
Glucosylsphingosine but not Saposin C, is the target antigen in Gaucher disease-associated gammopathy.
Mol Genet Metab. 2020 Apr;129(4):286-291. doi: 10.1016/j.ymgme.2020.01.009. Epub 2020 Feb 5.
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Chronic Systemic Inflammation Exacerbates Neurotoxicity in a Parkinson's Disease Model.
Oxid Med Cell Longev. 2020 Jan 13;2020:4807179. doi: 10.1155/2020/4807179. eCollection 2020.

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