Plasma and metabolic abnormalities in Gaucher's disease.
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Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substratesDental profile of patients with Gaucher diseaseEliglustat tartrate for the treatment of adults with type 1 Gaucher diseaseBiomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease.Substrate reduction therapy: clinical evaluation in type 1 Gaucher disease.Splenomegaly, cardiomegaly, and osteoporosis in a child with Gaucher disease.Gaucher's disease diagnosed by splenectomy.Hemorrhagic aspects of Gaucher disease.Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model.Bone events and evolution of biologic markers in Gaucher disease before and during treatment.Gaucher disease and its treatment options.Gaucher disease: clinical profile and therapeutic developments.Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.Biochemistry of glycosphingolipid storage disorders: implications for therapeutic interventionFuture perspectives for glycolipid research in medicine.Chitotriosidase gene expression in Kupffer cells from patients with non-alcoholic fatty liver disease.Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse modelsNew developments in treating glycosphingolipid storage diseases.Role of chitotriosidase (chitinase 1) under normal and disease conditions.Oral aspects of Gaucher's disease: a literature review and case report.Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic responseChitotriosidase is the primary active chitinase in the human lung and is modulated by genotype and smoking habit.Gaucher disease: a model disorder for biomarker discovery.Lysosomal storage disease: revealing lysosomal function and physiology.The cellular pathology of lysosomal diseases.Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysisIron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.Transglycosidase activity of chitotriosidase: improved enzymatic assay for the human macrophage chitinase.
P2860
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P2860
Plasma and metabolic abnormalities in Gaucher's disease.
description
1997 nî lūn-bûn
@nan
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
1997年论文
@zh
1997年论文
@zh-cn
name
Plasma and metabolic abnormalities in Gaucher's disease.
@en
type
label
Plasma and metabolic abnormalities in Gaucher's disease.
@en
prefLabel
Plasma and metabolic abnormalities in Gaucher's disease.
@en
P1476
Plasma and metabolic abnormalities in Gaucher's disease
@en
P2093
C E Hollak
P304
P356
10.1016/S0950-3536(97)80034-0
P50
P577
1997-12-01T00:00:00Z