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TranscriptomicsBeyond the Macrophage: System-wide Cellular and Molecular Dysregulation in GBA1 Deficient Mice Recapitulates Human Non-neuronopathic, Type 1 Gaucher Disease
In non-neuronopathic type 1 Gaucher disease (GD1) mutations in GBA1 gene results in deficiency of glucocerebrosidase and the accumulation of glucocerebroside in lysosomes of mononuclear phagocytes. The metabolic defect leads to a complex phenotype involving the viscera, the bone marrow and the skele...
ORGANISM(S): Mus musculus 
2010-07-29 | E-GEOD-23086 | biostudies-arrayexpress
UnknownIncremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease.
Not available
S-EPMC8408524 | biostudies-literature
UnknownGlucosylsphingosine is a key biomarker of Gaucher disease.
Not available
S-EPMC5234703 | biostudies-literature
TranscriptomicsExpression data from CD1d tetramer-sorted b-GL122/LGL1–specific human T cells or iNKT cells
The ability to detect and isolate bGL1-22/LGL1–specific human type II NKT cells allowed us to compare the global gene expression profiles of these cells with type I NKT cells using microarray analysis. Principal component analysis revealed that the gene expression profile signature for bGL1-22 and...
ORGANISM(S): Homo sapiens 
2016-02-16 | E-GEOD-77909 | biostudies-arrayexpress
UnknownConsensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Not available
S-EPMC5589980 | biostudies-literature
UnknownOsteonecrosis in Gaucher disease in the era of multiple therapies: Biomarker set for risk stratification from a tertiary referral center.
Not available
S-EPMC10317498 | biostudies-literature
UnknownThe Role of ARF6 in Biliary Atresia.
Not available
S-EPMC4574480 | biostudies-literature
UnknownPostoperative outcomes in oesophagectomy with trainee involvement.
Not available
S-EPMC8763367 | biostudies-literature
UnknownEffects of empagliflozin on quality of life and healthcare use and costs in chronic kidney disease: a health economic analysis of the EMPA-KIDNEY trial.
Not available
S-EPMC12274867 | biostudies-literature
UnknownDeath following pulmonary complications of surgery before and during the SARS-CoV-2 pandemic.
Not available
S-EPMC10364875 | biostudies-literature
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