about
Enzyme replacement and substrate reduction therapy for Gaucher diseaseRare causes of osteoporosisThe clinical management of Type 2 Gaucher diseaseNeonatal Cholestasis - Differential Diagnoses, Current Diagnostic Procedures, and TreatmentLysosomal integral membrane protein-2: a new player in lysosome-related pathologyA multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.Using pharmacological chaperones to restore proteostasisEvaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3)Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis.Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration.Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patientsA new framework for evaluating the health impacts of treatment for Gaucher disease type 1.Modeling neurodevelopmental disorders using human pluripotent stem cells.Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Gaucher disease and bone manifestations.Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland.Successful newborn screening for Gaucher disease using fluorometric assay in China.Plant-based oral delivery of β-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease.In situ visualization of glucocerebrosidase in human skin tissue: zymography versus activity-based probe labeling.Enzymes as Immunotherapeutics.Diagnosis of lysosomal storage disorders: Gaucher disease.Translational Aspects of Sphingolipid Metabolism in Renal Disorders.Targeted delivery of pharmacological chaperones for Gaucher disease to macrophages by a mannosylated cyclodextrin carrier.Turning the backbone into an ankylosed concrete-like structure: Case report.Metabolite Profiling Reveals the Effect of Dietary Rubus coreanus Vinegar on Ovariectomy-Induced Osteoporosis in a Rat Model.Glucocerebrosidase deficiency promotes protein aggregation through dysregulation of extracellular vesicles
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Gaucher disease: a comprehensive review.
@ast
Gaucher disease: a comprehensive review.
@en
type
label
Gaucher disease: a comprehensive review.
@ast
Gaucher disease: a comprehensive review.
@en
prefLabel
Gaucher disease: a comprehensive review.
@ast
Gaucher disease: a comprehensive review.
@en
P1476
Gaucher disease: a comprehensive review.
@en
P2093
Barry E Rosenbloom
Neal J Weinreb
P304
P356
10.1615/CRITREVONCOG.2013006060
P407
P577
2013-01-01T00:00:00Z