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「glucocerebrosidase」の検索結果

2967件中 81件~100件表示    検索結果をPubMedで見る PubMedで見る

Generation of two iPSC lines derived from two unrelated patients with Gaucher disease.

In vivo inactivation of glycosidases by conduritol B epoxide and cyclophellitol as revealed by activity-based protein profiling.

Gaucher Disease: New Expanded Classification Emphasizing Neurological Features.

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.

Validation of anti-glucocerebrosidase antibodies for western blot analysis on protein lysates of murine and human cells.

Small Bowel Mucosal Involvement and Mesenteric Mass Formation in a Young Female with Type 3 Gaucher Disease. A Case Report.

[Cavernoma complicated with biliopatia secondary to type 1 Gaucher disease: report of a Peruvian case].

Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.

Development and biochemical characterization of a mouse model of Parkinson's disease bearing defective glucocerebrosidase activity.

Genetic analysis of the glucocerebrosidase gene in South Indian patients with Parkinson's disease.

The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

[Gaucher's disease - an overview about a sphingolipidosis].

Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy.

Three mutations of adult type 1 Gaucher disease found in a Chinese patient: A case report.

Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia.

Neuronal ceroid lipofuscinosis related ER membrane protein CLN8 regulates PP2A activity and ceramide levels.

Pharmacological treatment of pediatric Gaucher disease.

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