相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial
Elena Lukina et al.
AMERICAN JOURNAL OF HEMATOLOGY (2019)
Galactosylsphingosine does not interfere with the quantitation of plasma glucosylsphingosine levels in Gaucher patients
Wei-Lien Chuang et al.
CLINICA CHIMICA ACTA (2019)
Glucosylsphingosine is a reliable response biomarker in Gaucher disease
David Arkadir et al.
AMERICAN JOURNAL OF HEMATOLOGY (2018)
Serum chitotriosidase: a circulating biomarker in polycythemia vera
Ivan Krecak et al.
HEMATOLOGY (2018)
Assessment of plasma chitotriosidase activity, CCL18/ PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study
Isabel De Castro-Oros et al.
JOURNAL OF TRANSLATIONAL MEDICINE (2017)
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials
Deborah Elstein et al.
MOLECULAR GENETICS AND METABOLISM (2017)
A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response
Wujuan Zhang et al.
ANALYST (2017)
Glucosylsphingosine is a key biomarker of Gaucher disease
Vagishwari Murugesan et al.
AMERICAN JOURNAL OF HEMATOLOGY (2016)
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
Bouwien E. Smid et al.
ORPHANET JOURNAL OF RARE DISEASES (2016)
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard
Mina Mirzaian et al.
BLOOD CELLS MOLECULES AND DISEASES (2015)
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool
Maria Fuller et al.
CLINICA CHIMICA ACTA (2015)
Measurement of psychosine in dried blood spots - a possible improvement to newborn screening programs for Krabbe disease
Coleman T. Turgeon et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Value of plasma chitotriosidase to assess non-neuronopathic Gaucher disease severity and progression in the era of enzyme replacement therapy
L. van Dussen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study
David J. Kuter et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
Arndt Rolfs et al.
PLOS ONE (2013)
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Nick Dekker et al.
BLOOD (2011)
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply
Ari Zimran et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
Evaluation of Spanish Gaucher disease patients after a 6-month imiglucerase shortage
Pilar Giraldo et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
Enzyme replacement therapy drug holiday: Results from an unexpected shortage of an orphan drug supply in Australia
Jack Goldblatt et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Pramod K. Mistry et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates
Anton P. Bussink et al.
FEBS JOURNAL (2009)
Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations - Implications for diagnosis and therapeutic monitoring
Marie E. Grace et al.
HUMAN MUTATION (2007)
S-MRI score: A simple method for assessing bone marrow involvement in Gaucher disease
M. Roca et al.
EUROPEAN JOURNAL OF RADIOLOGY (2007)
Plasma chitotriosidase in male Fabry patients: A marker for monitoring lipid-laden macrophages and their correction by enzyme replacement therapy
A. C. Vedder et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
Markus Ries et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
J Brinkman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
LA Boven et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2004)
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention
RG Boot et al.
BLOOD (2004)
Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Graucher and with Niemann-Pick diseases
A Wajner et al.
CLINICAL BIOCHEMISTRY (2004)
The expanding spectrum of disorders with elevated plasma chitotriosidase activity: An update
H Michelakakis et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Transglycosidase activity of chitotriosidase - Improved enzymatic assay for the human macrophage chitinase
B Aguilera et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Plasma chitotriosidase activity in patients with β-thalassemia
G Altarescu et al.
AMERICAN JOURNAL OF HEMATOLOGY (2002)