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「glucocerebrosidase」の検索結果

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Generation of a homozygous GBA deletion human embryonic stem cell line.

Insights into the structural biology of Gaucher disease.

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

Serum lipid alterations in GBA-associated Parkinson's disease.

Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease.

Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials.

Glucosylsphingosine promotes α-synuclein pathology in mutant GBA-associated Parkinson's disease.

Exploring the patient journey to diagnosis of Gaucher disease from the perspective of 212 patients with Gaucher disease and 16 Gaucher expert physicians.

Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.

Glucocerebrosidase expression patterns in the non-human primate brain.

GBA mutations in Parkinson disease: earlier death but similar neuropathological features.

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal.

Dual-Task Performance in GBA Parkinson's Disease.

Genes and Nonmotor Symptoms in Parkinson's Disease.

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.

Investigation of novel pharmacological chaperones for Gaucher Disease.

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Permeability Barrier and Microstructure of Skin Lipid Membrane Models of Impaired Glucosylceramide Processing.

New Therapeutic Strategies for Lewy Body Dementias.

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