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「glucocerebrosidase」の検索結果

2703件中 1件~20件表示    検索結果をPubMedで見る PubMedで見る

The Enigmatic Role of GBA2 in Controlling Locomotor Function.

Application of Fourier transform infrared spectroscopy to biomolecular profiling of cultured fibroblast cells from Gaucher disease patients: A preliminary investigation.

Thalassaemia Trait with Gaucher Disease: A Diagnostic Dilemma.

Lysosomal integral membrane protein-2 as a phospholipid receptor revealed by biophysical and cellular studies.

Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation.

The lysosomal enzyme alpha-Galactosidase A is deficient in Parkinson's disease brain in association with the pathologic accumulation of alpha-synuclein.

Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course.

[The clinical features of Parkinson's disease in patients with mutations and polymorphic variants of GBA gene].

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.

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