Related references
Note: Only part of the references are listed.Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe
Nadia Belmatoug et al.
EUROPEAN JOURNAL OF INTERNAL MEDICINE (2017)
The role of cardiac magnetic resonance in assessing the cardiac involvement in Gaucher type 1 patients: morphological and functional evaluations
Alberto Roghi et al.
JOURNAL OF CARDIOVASCULAR MEDICINE (2017)
Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages
Elma Aflaki et al.
AGING CELL (2016)
Glucosylsphingosine is a key biomarker of Gaucher disease
Vagishwari Murugesan et al.
AMERICAN JOURNAL OF HEMATOLOGY (2016)
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's
Ganqiang Liu et al.
ANNALS OF NEUROLOGY (2016)
Survival and dementia in GBA-associated Parkinson's disease: The mutation matters
Roberto Cilia et al.
ANNALS OF NEUROLOGY (2016)
Glucosylceramidases and malignancies in mammals
Leonardo Astudillo et al.
BIOCHIMIE (2016)
Re-evaluation of bone pain in patients with type 1 Gaucher disease suggests that bone crises occur in small bones as well as long bones
Hagit N. Baris et al.
BLOOD CELLS MOLECULES AND DISEASES (2016)
Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease
Martine Regenboog et al.
BLOOD CELLS MOLECULES AND DISEASES (2016)
New Directions in Gaucher Disease
Mia Horowitz et al.
HUMAN MUTATION (2016)
A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin
Kerri J. Kinghorn et al.
JOURNAL OF NEUROSCIENCE (2016)
Advances in GSA-associated Parkinson's disease - Pathology, presentation and therapies
Melinda Barkhuizen et al.
NEUROCHEMISTRY INTERNATIONAL (2016)
Clonal Immunoglobulin against Lysolipids in the Origin of Myeloma
Shiny Nair et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Prenatal diagnosis of Gaucher disease using next-generation sequencing
Shinichiro Yoshida et al.
PEDIATRICS INTERNATIONAL (2016)
Progranulin Recruits HSP70 to β-Glucocerebrosidase and Is Therapeutic Against Gaucher Disease
Jinlong Jian et al.
EBIOMEDICINE (2016)
Association Between Progranulin and Gaucher Disease
Jinlong Jian et al.
EBIOMEDICINE (2016)
Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
Alvaro Sanchez-Martinez et al.
SCIENTIFIC REPORTS (2016)
Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt
Magy Abdelwahab et al.
NEUROLOGY-GENETICS (2016)
Long-term treatment outcomes in Gaucher disease
Joel Charrow et al.
AMERICAN JOURNAL OF HEMATOLOGY (2015)
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry
Gregory A. Grabowski et al.
AMERICAN JOURNAL OF HEMATOLOGY (2015)
The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders
Lorne A. Clarke et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Dissociation of glucocerebrosidase dimer in solution by its co-factor, saposin C
James M. Gruschus et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2015)
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)
Proinflammatory and proosteoclastogenic potential of peripheral blood mononuclear cells from Gaucher patients: Implication for bone pathology
J. M. Mucci 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)
Bone marrow involvement in Gaucher disease at MRI : what long-term evolution can we expect under enzyme replacement therapy?
Benjamin Fedida et al.
EUROPEAN RADIOLOGY (2015)
Effect of Oral Eliglustat on Splenomegaly in Patients With Gaucher Disease Type 1 The ENGAGE Randomized Clinical Trial
Pramod K. Mistry et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2015)
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial
Timothy M. Cox et al.
LANCET (2015)
The clinical management of type 2 Gaucher disease
Karin Weiss et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice
Maria Dahl et al.
MOLECULAR THERAPY (2015)
Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation
Chunzhang Yang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2015)
Structural Features of Membrane-bound Glucocerebrosidase and α-Synuclein Probed by Neutron Reflectometry and Fluorescence Spectroscopy
Thai Leong Yap et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2015)
Inhibition of UDP-glucosylceramide synthase in mice prevents Gaucher disease-associated B-cell malignancy
Elena V. Pavlova et al.
JOURNAL OF PATHOLOGY (2015)
Acquired von Willebrand syndrome in patients with Gaucher disease
Mirjana Mitrovic et al.
BLOOD CELLS MOLECULES AND DISEASES (2014)
Iron homeostasis and inflammatory biomarker analysis in patients with type 1 Gaucher disease
B. Medrano-Engay et al.
BLOOD CELLS MOLECULES AND DISEASES (2014)
Eliglustat, an investigational oral therapy for Gaucher disease type 1: Phase 2 trial results after 4 years of treatment
Elena Lukina et al.
BLOOD CELLS MOLECULES AND DISEASES (2014)
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease
Karen E. Murphy et al.
BRAIN (2014)
Glucocerebrosidase is shaking up the synucleinopathies
Marina Siebert et al.
BRAIN (2014)
Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells
Alisdair McNeill et al.
BRAIN (2014)
Gaucher Disease and Bone Manifestations
Gemma Marcucci et al.
CALCIFIED TISSUE INTERNATIONAL (2014)
Long-term risks after splenectomy among 8,149 cancer-free American veterans: a cohort study with up to 27 years follow-up
Sigurdur Y. Kristinsson et al.
HAEMATOLOGICA (2014)
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)
Outcome of pregnancies in women receiving velaglucerase alfa for Gaucher disease
Deborah Elstein et al.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (2014)
Lysosomal integral membrane protein-2: A new player in lysosome-related pathology
Ashley Gonzalez et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model
Marie Vigan et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Glucocerebrosidase 2 gene deletion rescues type 1 Gaucher disease
Pramod K. Mistry et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Biomarkers in Connective Tissue Disease-Associated Interstitial Lung Disease
Francesco Bonella et al.
SEMINARS IN RESPIRATORY AND CRITICAL CARE MEDICINE (2014)
Skeletal improvement in patients with Gaucher disease type 1: a phase 2 trial of oral eliglustat
Ravi S. Kamath et al.
SKELETAL RADIOLOGY (2014)
Progranulin in neurodegenerative disease
Terri L. Petkau et al.
TRENDS IN NEUROSCIENCES (2014)
Comparison of Parkinson Risk in Ashkenazi Jewish Patients With Gaucher Disease and GBA Heterozygotes
Roy N. Alcalay et al.
JAMA NEUROLOGY (2014)
Hemorrhagic Aspects of Gaucher Disease
Hanna Rosenbaum
RAMBAM MAIMONIDES MEDICAL JOURNAL (2014)
Pseudo-Gaucher cells in disseminated mycobacterial infection
Satya Vara Prasad Busarla et al.
AMERICAN JOURNAL OF HEMATOLOGY (2013)
Saposin C Protects Glucocerebrosidase against α-Synuclein Inhibition
Thai Leong Yap et al.
BIOCHEMISTRY (2013)
Altered innate function of plasmacytoid dendritic cells restored by enzyme replacement therapy in Gaucher disease
Cecile Braudeau et al.
BLOOD CELLS MOLECULES AND DISEASES (2013)
Malignancies and monoclonal gammopathy in Gaucher disease; a systematic review of the literature
Maarten Arends et al.
BRITISH JOURNAL OF HAEMATOLOGY (2013)
Role of CCL18 in asthma and lung immunity
A. Tsicopoulos et al.
CLINICAL AND EXPERIMENTAL ALLERGY (2013)
Human Chitotriosidase: a Sensitive Biomarker of Sarcoidosis
Elena Bargagli et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2013)
Identification of human CCR8 as a CCL18 receptor
Sabina A. Islam et al.
JOURNAL OF EXPERIMENTAL MEDICINE (2013)
Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment
Neal J. Weinreb et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
B cell lymphoma and myeloma in murine Gaucher's disease
E. V. Pavlova et al.
JOURNAL OF PATHOLOGY (2013)
Membrane-bound alpha-synuclein interacts with glucocerebrosidase and inhibits enzyme activity
Thai Leong Yap et al.
MOLECULAR GENETICS AND METABOLISM (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)
Ferritinemia during type 1 Gaucher disease: Mechanisms and progression under treatment
Arsene Mekinian et al.
BLOOD CELLS MOLECULES AND DISEASES (2012)
Characteristics of type I Gaucher disease associated with persistent thrombocytopenia after treatment with imiglucerase for 4-5 years
Carla E. M. Hollak et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
The uptake of recombinant glucocerebrosidases by blood monocytes from type 1 Gaucher disease patients is variable
Juliette Berger et al.
BRITISH JOURNAL OF HAEMATOLOGY (2012)
A branch retinal artery occlusion in a patient with Gaucher disease
Alice Bruscolini et al.
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY (2012)
The role of saposin C in Gaucher disease
Rafael J. Tamargo et al.
MOLECULAR GENETICS AND METABOLISM (2012)
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients
Jerome Stirnemann et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Bone Marrow Microenvironment in an In Vitro Model of Gaucher Disease: Consequences of Glucocerebrosidase Deficiency
Severine Lecourt et al.
STEM CELLS AND DEVELOPMENT (2012)
Acid β-Glucosidase Mutants Linked to Gaucher Disease, Parkinson Disease, and Lewy Body Dementia Alter α-Synuclein Processing
Valerie Cullen et al.
ANNALS OF NEUROLOGY (2011)
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Nick Dekker et al.
BLOOD (2011)
Osteopenia in Gaucher disease develops early in life: Response to imiglucerase enzyme therapy in children, adolescents and adults
Pramod K. Mistry et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
Impact of imiglucerase on the serum glycosylated-ferritin level in Gaucher disease
Jerome Stirnemann et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
A monozygotic twin pair with highly discordant Gaucher phenotypes
M. Biegstraaten et al.
BLOOD CELLS MOLECULES AND DISEASES (2011)
A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients
Ichraf Kraoua et al.
BRAIN & DEVELOPMENT (2011)
Platelet adhesion defect in type I Gaucher Disease is associated with a risk of mucosal bleeding
Galia Spectre et al.
BRITISH JOURNAL OF HAEMATOLOGY (2011)
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Joseph R. Mazzulli et al.
CELL (2011)
A Mutation in SCARB2 is a Modifier in Gaucher Disease
Arash Velayati et al.
HUMAN MUTATION (2011)
α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases
Thai Leong Yap et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Development of a panel of highly sensitive, equivalent assays for detection of antibody responses to velaglucerase alfa or imiglucerase enzyme replacement therapy in patients with Gaucher disease
Marcia Sellos-Moura et al.
JOURNAL OF IMMUNOLOGICAL METHODS (2011)
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
Johannes M. F. G. Aerts et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Gastrointestinal disturbances and their management in miglustat-treated patients
Nadia Belmatoug et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2011)
Therapeutic approaches to bone pathology in Gaucher disease: Past, present and future
Ozlem Goker-Alpan
MOLECULAR GENETICS AND METABOLISM (2011)
Osseous Manifestations of Adult Gaucher Disease in the Era of Enzyme Replacement Therapy
Patrick B. Deegan et al.
MEDICINE (2011)
Organ Volume by Computed Tomography Correlates With Longitudinal Axis on Ultrasound in Patients With Gaucher Disease
Deborah Elstein et al.
ULTRASOUND QUARTERLY (2011)
Hyperferritinemia and iron overload in type 1 Gaucher disease
Philip Stein et al.
AMERICAN JOURNAL OF HEMATOLOGY (2010)
A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1
Elena Lukina et al.
BLOOD (2010)
Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study
Marieke Biegstraaten et al.
BRAIN (2010)
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease
Juliette Berger et al.
BRITISH JOURNAL OF HAEMATOLOGY (2010)
Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans
Suzanne Lesage et al.
HUMAN MOLECULAR GENETICS (2010)
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
Anna M. Vaccaro et al.
HUMAN MOLECULAR GENETICS (2010)
Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease
Idit Ron et al.
HUMAN MOLECULAR GENETICS (2010)
Primary bone angiosarcoma in a patient with Gaucher disease
Samo Zver et al.
INTERNATIONAL JOURNAL OF HEMATOLOGY (2010)
Bone density in type 1 gaucher disease
Gregory M. Pastores et al.
JOURNAL OF BONE AND MINERAL RESEARCH (2010)
Disease severity in sibling pairs with type 1 Gaucher disease
Deborah Elstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
The risk of Parkinson's disease in type 1 Gaucher disease
Gilberto Bultron et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry
Anna Tylki-Szymanska et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
High incidence of cholesterol gallstone disease in type 1 Gaucher disease: characterizing the biliary phenotype of type 1 Gaucher disease
Tamar H. Taddei et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Focal splenic lesions in type I Gaucher disease are associated with poor platelet and splenic response to macrophage-targeted enzyme replacement therapy
Philip Stein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
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)
Bone events and evolution of biologic markers in Gaucher disease before and during treatment
Jerome Stirnemann et al.
ARTHRITIS RESEARCH & THERAPY (2010)
An overview on bone manifestations in Gaucher disease
Peter Mikosch et al.
WIENER MEDIZINISCHE WOCHENSCHRIFT (2010)
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients
Tamar H. Taddei et al.
AMERICAN JOURNAL OF HEMATOLOGY (2009)
The Erlenmeyer Flask Bone Deformity In the Skeletal Dysplasias
Maha A. Faden et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease
M. de Fost et al.
ATHEROSCLEROSIS (2009)
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome
Philippe M. Campeau et al.
BLOOD (2009)
Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy
Bernard Grosbois et al.
BLOOD CELLS MOLECULES AND DISEASES (2009)
Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis
Pramod K. Mistry et al.
BRITISH JOURNAL OF HAEMATOLOGY (2009)
Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement
N. Cindik et al.
CLINICAL CARDIOLOGY (2009)
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
Giancarlo Parenti
EMBO MOLECULAR MEDICINE (2009)
Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates
Anton P. Bussink et al.
FEBS JOURNAL (2009)
Dose-response relationships for enzyme replacement therapy with imiglucerase/alglucerase in patients with Gaucher disease type 1
Gregory A. Grabowski et al.
GENETICS IN MEDICINE (2009)
Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease
Gustavo H. B. Maegawa et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Clinical and genetic study of Japanese patients with type 3 Gaucher disease
Asako Tajima et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
E. Sidransky et al.
NEW ENGLAND JOURNAL OF MEDICINE (2009)
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Samuel E. Berkovic et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature
M. de Fost et al.
ANNALS OF HEMATOLOGY (2008)
Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy
A. Langeveld et al.
BLOOD CELLS MOLECULES AND DISEASES (2008)
Gaucher disease:: Mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)
Kathleen S. Hruska et al.
HUMAN MUTATION (2008)
Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
T. M. Cox et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Lysosomal storage disease 1 - Phenotype, diagnosis, and treatment of Gaucher's disease
Gregory A. Grabowski
LANCET (2008)
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of β-Glucocerebrosidase
David Reczek et al.
CELL (2007)
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
L. N. Clark et al.
NEUROLOGY (2007)
Increased plasma macrophage inflammatory protein (MIP)-1α and MIP-1β levels in type 1 Gaucher disease
Marielle J. van Breemen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2007)
Risk of malignant disease among 1525 adult male US veterans with gaucher disease
Ola Landgren et al.
ARCHIVES OF INTERNAL MEDICINE (2007)
Lysosomal integral membrane protein 2 is a novel component of the cardiac intercalated disc and vital for load-induced cardiac myocyte hypertrophy
Blanche Schroen et al.
JOURNAL OF EXPERIMENTAL MEDICINE (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 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)
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease
Derralynn Hughes et al.
BRITISH JOURNAL OF HAEMATOLOGY (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)
Gaucher disease and multiple myeloma
Regis Costello et al.
LEUKEMIA & LYMPHOMA (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)
Substrate reduction therapy of glycosphingolipid storage disorders
Johannes M. F. G. Aerts et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Increased incidence of cancer in adult Gaucher disease in Western Europe
M de Fost et al.
BLOOD CELLS MOLECULES AND DISEASES (2006)
Type 2 Gaucher disease: 15 new cases and review of the literature
C Mignot et al.
BRAIN & DEVELOPMENT (2006)
Mutations in the glucocerebrosidase gene and Parkinson disease: Phenotype-genotype correlation
J Aharon-Peretz et al.
NEUROLOGY (2005)
Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease
PB Deegan et al.
BLOOD CELLS MOLECULES AND DISEASES (2005)
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
HUMAN MOLECULAR GENETICS (2005)
Gaucher disease and cancer incidence: a study from the Gaucher Registry
BE Rosenbloom et al.
BLOOD (2005)
Analysis of the glucocerebrosidase gene in Parkinson's disease
C Sato et al.
MOVEMENT DISORDERS (2005)
Individualization of long-term enzyme replacement therapy for Gaucher disease
HC Andersson et al.
GENETICS IN MEDICINE (2005)
Lymphocyte egress from thymus and peripheral lymphoid organs is dependent on S1P receptor 1
M Matloubian et al.
NATURE (2004)
Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages
LA Boven et al.
AMERICAN JOURNAL OF CLINICAL PATHOLOGY (2004)
Gaucher disease: complexity in a simple disorder
E Sidransky
MOLECULAR GENETICS AND METABOLISM (2004)
The pathogenesis of glycosphingolipid storage disorders
L Ginzburg et al.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY (2004)
Effect of enzyme replacement therapy on gammopathies in Gaucher disease
A Brautbar et al.
BLOOD CELLS MOLECULES AND DISEASES (2004)
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model: a possible role in the neuronal loss
YB Hong et al.
JOURNAL OF HUMAN GENETICS (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)
Therapeutic goals in the treatment of Gaucher disease
GM Pastores et al.
SEMINARS IN HEMATOLOGY (2004)
Transglycosidase activity of chitotriosidase - Improved enzymatic assay for the human macrophage chitinase
B Aguilera et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Amyloidosis and gastric bleeding in a patient with Gaucher disease
D Elstein et al.
JOURNAL OF CLINICAL GASTROENTEROLOGY (2003)
Perinatal-lethal Gaucher disease
C Mignot et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Quantification of bone involvement in Gaucher disease: MR imaging bone marrow burden score as an alternative to dixon quantitative chemical shift MR imaging - Initial experience
M Maas et al.
RADIOLOGY (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)
Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype
E Orvisky et al.
MOLECULAR GENETICS AND METABOLISM (2002)
Gaucher disease with nephrotic syndrome: Response to enzyme replacement therapy
D Santoro et al.
AMERICAN JOURNAL OF KIDNEY DISEASES (2002)
Skeletal aspects of Gaucher disease: a review
RJ Wenstrup et al.
BRITISH JOURNAL OF RADIOLOGY (2002)
Imaging and quantifying skeletal involvement in Gaucher disease
M Maas et al.
BRITISH JOURNAL OF RADIOLOGY (2002)
Bone complications in children with Gaucher disease
B Bembi et al.
BRITISH JOURNAL OF RADIOLOGY (2002)
Dixon quantitative chemical shift imaging is a sensitive tool for the evaluation of bone marrow responses to individualized doses of enzyme supplementation therapy in type 1 Gaucher disease
C Hollak et al.
BLOOD CELLS MOLECULES AND DISEASES (2001)
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation
R George et al.
CLINICAL GENETICS (2001)
The Gaucher registry -: Demographics and disease characteristics of 1698 patients with Gaucher disease
J Charrow et al.
ARCHIVES OF INTERNAL MEDICINE (2000)
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease
V Koprivica et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)
Extraosseous manifestation of Gaucher's disease type I: MR and histological appearance
LW Poll et al.
EUROPEAN RADIOLOGY (2000)
Share Paper
