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「glucocerebrosidase」の検索結果

2601件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned?

Stereodivergent synthesis of right- and left-handed iminoxylitol heterodimers and monomers. Study of their impact on β-glucocerebrosidase activity.

Age and gender-specific reference intervals for lysosomal enzymes in dried blood spot samples: A study in Indian population.

Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.

Intracellular metabolite β-glucosylceramide is an endogenous Mincle ligand possessing immunostimulatory activity.

Enrichment of apoplastic fluid with therapeutic recombinant protein for efficient biofarming.

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease.

Successful newborn screening for Gaucher disease using fluorometric assay in China.

Effect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.

N-Guanidino Derivatives of 1,5-Dideoxy-1,5-imino-d-xylitol are Potent, Selective, and Stable Inhibitors of β-Glucocerebrosidase.

Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.

Oral ambroxol increases brain glucocerebrosidase activity in a non-human primate.

Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.

Assessment of Bone Health in Patients with Type 1 Gaucher Disease Using Impact Microindentation.

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover.

The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease.

Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.

Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.

A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments.

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.

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