- Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures
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Rim JH, Baik M, Yoon SO, Heo K, Song J
- KMID: 2373520
- Ann Lab Med.
- 2016 Mar;36(2):177-179.
- doi: 10.3343/alm.2016.36.2.177
No abstract available. -
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- Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse
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Hong YB, Kim EY, Jung SC
- KMID: 2157830
- J Korean Med Sci.
- 2006 Aug;21(4):733-738.
- doi: 10.3346/jkms.2006.21.4.733
Gaucher disease is caused by a deficiency of glucocerebrosidase. Patients with Gaucher disease are divided into three major phenotypes: chronic nonneuronopathic, acute neuronopathic, and chronic neuronopathic, based on symptoms of... -
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- Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and alpha-synuclein aggregation
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Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ
- KMID: 2155418
- Exp Mol Med.
- 2015 Mar;47(3):e153.
- doi: 10.1038/emm.2014.128
Lysosomal dysfunction is a common pathological feature of neurodegenerative diseases. GTP-binding protein type A1 (GBA1) encodes beta-glucocerebrosidase 1 (GCase 1), a lysosomal hydrolase. Homozygous mutations in GBA1 cause Gaucher disease,... -
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