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「glucocerebrosidase」の検索結果

2998件中 141件~160件表示    検索結果をPubMedで見る PubMedで見る

Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.

Path mediation analysis reveals GBA impacts Lewy body disease status by increasing α-synuclein levels.

A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene.

Blood lysosphingolipids accumulation in patients with parkinson's disease with glucocerebrosidase 1 mutations.

Mitochondrial Dysfunction and Mitophagy Defect Triggered by Heterozygous GBA Mutations.

The glycoprotein GPNMB is selectively elevated in the substantia nigra of Parkinson's disease patients and increases after lysosomal stress.

Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Enzyme Replacement Therapy in a Gaucher Family.

Cognition among individuals along a spectrum of increased risk for Parkinson's disease.

Delivery of Gba Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher disease.

Prevalence of pre-diagnostic symptoms did not differ between LRRK2-related, GBA-related and idiopathic patients with Parkinson's disease.

Prevalence and predictors of liver fibrosis evaluated by vibration controlled transient elastography in type 1 Gaucher disease.

Epidermal Lamellar Granules.

Orthoester functionalized -guanidino derivatives of 1,5-dideoxy-1,5-imino-d-xylitol as pH-responsive inhibitors of β-glucocerebrosidase.

Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease.

Cutaneous permeability barrier function in signal transducer and activator of transcription 6-deficient mice is superior to that in wild-type mice.

Exploring genetic modifiers of Gaucher disease: The next horizon.

Role of GSK3β/α-synuclein axis in methamphetamine-induced neurotoxicity in PC12 cells.

Recent advances in the diagnosis and management of Gaucher disease.

Ambroxol modulates 6-Hydroxydopamine-induced temporal reduction in Glucocerebrosidase (GCase) enzymatic activity and Parkinson's disease symptoms.

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