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「glucocerebrosidase」の検索結果

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Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease.

A multicenter, open-label, phase III study of Abcertin in Gaucher disease.

Alpha-synuclein dimerization in erythrocytes of patients with genetic and non-genetic forms of Parkinson's Disease.

High Performance Liquid Chromatography-Mass Spectrometry (LC-MS) Based Quantitative Lipidomics Study of Ganglioside-NANA-3 Plasma to Establish Its Association with Parkinson's Disease Patients.

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Cognitive impairment in Glucocerebrosidase (GBA)-associated PD: Not primarily associated with cerebrospinal fluid Abeta and Tau profiles.

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene.

Immunogenicity of glycans on biotherapeutic drugs produced in plant expression systems-The taliglucerase alfa story.

Molecular mechanisms of α-synuclein and GBA1 in Parkinson's disease.

Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease.

Hematopoietic stem cell transplantation for Gaucher disease.

In-situ visualization of glucocerebrosidase in human skin tissue: Zymography vs activity-based probe labeling.

A nucleotide substitution in exon 8 of the glucosylceramidase beta gene is associated with Gaucher disease in sheep.

The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p.

Reduced cerebral vascularisation in experimental neuronopathic Gaucher disease.

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Frequency of GBA variants in autopsy-proven multiple system atrophy.

GBA mutations in Gaucher type I Venezuelan patients: ethnic origins and frequencies.

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