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注意：仅列出部分参考文献，下载原文获取全部文献信息。Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistance
Mirjam Langeveld et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)
Novel enzyme replacement therapy for Gaucher disease: On-going phase III clinical trial with recombinant human glucocerebrosidase expressed in plant cells
David Aviezer et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Preliminary results of a phase II clinical trial of Genz-112638 in patients with type I Gaucher disease
Judith Peterschmitt et al.
MOLECULAR GENETICS AND METABOLISM (2008)
114. Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results
Brandon Wustman et al.
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Recombinant therapeutic proteins: Production platforms and challenges
Theo Dingermann
Biotechnology Journal (2007)
Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases
E. H. Davies et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement
Deborah Elstein et al.
BLOOD (2007)
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system
Yoseph Shaaltiel et al.
PLANT BIOTECHNOLOGY JOURNAL (2007)
Effect of miglustat on bone disease in adults with type 1 Gaucher disease:: A pooled analysis of three multinational, open-label studies
Gregory M. Pastores et al.
CLINICAL THERAPEUTICS (2007)
Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among Hematologists-Oncologists and an opportunity for early diagnosis and intervention
Prarnod K. Mistry et al.
AMERICAN JOURNAL OF HEMATOLOGY (2007)
Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease
Guillermo Drelichman et al.
JOURNAL OF PEDIATRICS (2007)
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated® human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease
Ari Zimran et al.
BLOOD CELLS MOLECULES AND DISEASES (2007)
Outcome of ten years' echocardiographic follow-up in children with Gaucher disease
Dror Rosengarten et al.
EUROPEAN JOURNAL OF PEDIATRICS (2007)
The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease
J. Charrow et al.
CLINICAL GENETICS (2007)
The long-term international safety experience of imiglucerase therapy for Gaucher disease
Kathryn Starzyk et al.
MOLECULAR GENETICS AND METABOLISM (2007)
The outcome of clinical parameters in adults with severe Type I Gaucher disease using very low dose enzyme replacement therapy
Callum Wilson et al.
MOLECULAR GENETICS AND METABOLISM (2007)
Effect of enzyme replacement therapy with imiglucerase on BMD in type 1 Gaucher disease
Richard J. Wenstrup et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2007)
Imiglucerase (Cerezyme((R))) improves quality of life in patients with skeletal manifestations of Gaucher disease
N. Weinreb et al.
CLINICAL GENETICS (2007)
The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms
Richard A. Steet et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Superior effects of high-dose enzyme replacement therapy in type 1 Gaucher disease on bone marrow involvement and chitotriosidase levels:: a 2-center retrospective analysis
Maaike de Fost et al.
BLOOD (2006)
Lysosomal storage diseases: Natural history and ethical and economic aspects
Ernest Beutler
MOLECULAR GENETICS AND METABOLISM (2006)
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
Paige Kaplan et al.
ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (2006)
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients
Stephan vom Dahl et al.
CURRENT MEDICAL RESEARCH AND OPINION (2006)
A questionnaire study for 128 patients with Gaucher disease
HJ Mankin et al.
CLINICAL GENETICS (2006)
Psychological complications of patients with Gaucher disease
W Packman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
NJ Weinreb et al.
AMERICAN JOURNAL OF HEMATOLOGY (2005)
Recent clinical progress in Gaucher disease
GA Grabowski
CURRENT OPINION IN PEDIATRICS (2005)
Convection perfusion of glucocerebrosidase for neuronopathic Gaucher's disease
RR Lonser et al.
ANNALS OF NEUROLOGY (2005)
Quality of life related to type 1 Gaucher disease:: Spanish experience
P Giraldo et al.
QUALITY OF LIFE RESEARCH (2005)
Individualization of long-term enzyme replacement therapy for Gaucher disease
HC Andersson et al.
GENETICS IN MEDICINE (2005)
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements
GA Grabowski et al.
EUROPEAN JOURNAL OF PEDIATRICS (2004)
Pregnancies in Gaucher disease: A 5-year study
Y Elstein et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2004)
Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy
M Itzchaki et al.
ACTA ORTHOPAEDICA SCANDINAVICA (2004)
Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: Consensus recommendations
J Charrow et al.
JOURNAL OF PEDIATRICS (2004)
Bone density changes with enzyme therapy for Gaucher disease
E Lebel et al.
JOURNAL OF BONE AND MINERAL METABOLISM (2004)
Gaucher disease type 1:: Revised recommendations on evaluations and monitoring for adult patients
NJ Weinreb et al.
SEMINARS IN HEMATOLOGY (2004)
Therapeutic goals in the treatment of Gaucher disease
GM Pastores et al.
SEMINARS IN HEMATOLOGY (2004)
Anesthesia for obstetric patients with Gaucher disease: survey and review
A Loscovich et al.
INTERNATIONAL JOURNAL OF OBSTETRIC ANESTHESIA (2004)
Bisphosphonate treatment of osteoporosis
NB Watts
CLINICS IN GERIATRIC MEDICINE (2003)
Rebound hepatosplenomegaly in type 1 Gaucher disease
J Tóth et al.
EUROPEAN JOURNAL OF HAEMATOLOGY (2003)
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
TM Cox et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2003)
Pulmonary hypertension in type I Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy
PK Mistry et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
NJ Weinreb et al.
AMERICAN JOURNAL OF MEDICINE (2002)
Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy
R Schiffmann et al.
BLOOD CELLS MOLECULES AND DISEASES (2002)
Interruption in enzyme replacement therapy for Gaucher disease
NJ Weinreb
BRITISH JOURNAL OF HAEMATOLOGY (2001)
Management of neuronopathic Gaucher disease: A European consensus
A Vellodi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Pregnancy after avascular necrosis of the femur complicating Gaucher's disease
JE Cleary et al.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2001)
The Gaucher registry -: Demographics and disease characteristics of 1698 patients with Gaucher disease
J Charrow et al.
ARCHIVES OF INTERNAL MEDICINE (2000)
Withdrawal of enzyme replacement therapy in Gaucher's disease
D Elstein et al.
BRITISH JOURNAL OF HAEMATOLOGY (2000)
The natural course of Gaucher disease in The Netherlands:: Implications for monitoring of disease manifestations
P Maaswinkel-Mooij et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
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