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Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

Rim JH, Baik M, Yoon SO, Heo K, Song J

No abstract available.
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Upregulation of Proinflammatory Cytokines in the Fetal Brain of the Gaucher Mouse

Hong YB, Kim EY, Jung SC

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

Bae EJ, Yang NY, Lee C, Lee HJ, Kim S, Sardi SP, Lee SJ

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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