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「glucocerebrosidase」の検索結果

3083件中 241件~260件表示    検索結果をPubMedで見る PubMedで見る

Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease.

Green Therapeutic Biocapsules: Using Plant Cells to Orally Deliver Biopharmaceuticals.

A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report.

Computational modelling approaches as a potential platform to understand the molecular genetics association between Parkinson's and Gaucher diseases.

Transcription factor NFE2L2/NRF2 modulates chaperone-mediated autophagy through the regulation of LAMP2A.

Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies.

Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis?

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease.

Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease.

[GBA mutations and Parkinson's disease].

Identification of Rice Extract Components that Increase β-Glucocerebrosidase Levels in Human Epidermal Keratinocytes.

Absence of infiltrating peripheral myeloid cells in the brains of mouse models of lysosomal storage disorders.

Glucocerebrosidase mRNA is Diminished in Brain of Lewy Body Diseases and Changes with Disease Progression in Blood.

GBA-Associated Parkinson's Disease and Other Synucleinopathies.

The Exosomal/Total α-Synuclein Ratio in Plasma Is Associated With Glucocerebrosidase Activity and Correlates With Measures of Disease Severity in PD Patients.

pH in nature, humans and skin.

Partial loss of ATP13A2 causes selective gliosis independent of robust lipofuscinosis.

How we manage Gaucher Disease in the era of choices.

The heterologous expression potential of an acid-tolerant Talaromyces pinophilus β-glucosidase in Saccharomyces cerevisiae.

Association of glucocerebrosidase polymorphisms and mutations with dementia in incident Parkinson's disease.

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