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「glucocerebrosidase」の検索結果

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Increased α-synuclein oligomerization is associated with decreased activity of glucocerebrosidase in the aging human striatum and hippocampus.

Simple and Complex Sugars in Parkinson's Disease: a Bittersweet Taste.

Decreased expression of GBA3 correlates with a poor prognosis in hepatocellular carcinoma patients.

Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.

Glucocerebrosidase Defects as a Major Risk Factor for Parkinson's Disease.

Liver transplantation for Gaucher disease presenting as neonatal cholestasis: Case report and literature review.

A novel mutation in the gene in a Japanese patient with SPG46: A case report.

Rare Variants in Specific Lysosomal Genes Are Associated with Parkinson's Disease.

Skin barrier lipid enzyme activity in Netherton patients is associated with protease activity and ceramide abnormalities.

Effect of Substrate Reduction Therapy in Comparison to Enzyme Replacement Therapy on Immune Aspects and Bone Involvement in Gaucher Disease.

Long Noncoding RNA POU3F3 and α-Synuclein in Plasma L1CAM Exosomes Combined with β-Glucocerebrosidase Activity: Potential Predictors of Parkinson's Disease.

Biofluid Biomarkers in Parkinson's Disease: Clarity Amid Controversy.

Cognitive decline and depressive symptoms: early non-motor presentations of parkinsonism among Egyptian Gaucher patients.

Glucocerebrosidase (GCase) activity modulation by 2-alkyl trihydroxypiperidines: Inhibition and pharmacological chaperoning.

Imino- and azasugar protonation inside human acid β-glucosidase, the enzyme defective in Gaucher disease.

Glucocerebrosidase: Functions in and Beyond the Lysosome.

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

High risk screening for Gaucher disease in patients with splenomegaly and/or thrombocytopenia in China: 55 cases identified.

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