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「glucocerebrosidase」の検索結果

2998件中 21件~40件表示    検索結果をPubMedで見る PubMedで見る

Beta Thalassemia Major with Gaucher's Disease: A Rare Entity.

Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish.

Functional assessment of glucocerebrosidase modulator efficacy in primary patient-derived macrophages is essential for drug development and patient stratification.

Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene.

Jaw bones' involvement and dental features of type I and type III Gaucher disease: a radiographic study of 42 paediatric patients.

Mutated in its Ortholog Recapitulates Neuronopathic Gaucher Disease.

[Diagnostic journey of type 1 Gaucher Disease patients: A survey including internists and hematologists].

Glucocerebrosidase and its relevance to Parkinson disease.

Ambroxol Hydrochloride Improves Motor Functions and Extends Survival in a Mouse Model of Familial Amyotrophic Lateral Sclerosis.

Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report.

Lipids as -Acting Effectors for α-Synuclein in the Pathogenesis of Parkinson's Disease.

Differential Isotope Labeling by Permethylation and Reversed-Phase Liquid Chromatography-Mass Spectrometry for Relative Quantification of Intact Neutral Glycolipids in Mammalian Cells.

Gene expression in stress urinary incontinence: a systematic review.

Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.

Progranulin deficiency leads to reduced glucocerebrosidase activity.

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.

Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism.

Lessons on Differential Neuronal-Death-Vulnerability from Familial Cases of Parkinson's and Alzheimer's Diseases.

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