Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

(2010) Tadayasu Togawa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease

(2010) S.M. Rombach et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

(2010) Mariëlle J. van Breemen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Spontaneous regression of disease manifestations can occur in type 1 Gaucher disease; results of a retrospective cohort study

(2010) Jooske M.F. Boomsma et al.   BLOOD CELLS MOLECULES AND DISEASES

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten et al.   BLOOD CELLS MOLECULES AND DISEASES

The cytosolic β-glucosidase GBA3 does not influence type 1 Gaucher disease manifestation

(2010) Nick Dekker et al.   BLOOD CELLS MOLECULES AND DISEASES

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

(2010) Christiane Auray-Blais et al.   CLINICA CHIMICA ACTA

Pharmacological small molecules for the treatment of lysosomal storage disorders

(2010) BE Smid et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

(2010) Tadayasu Togawa et al.   MOLECULAR GENETICS AND METABOLISM

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

(2010) Martin D Witte et al.   Nature Chemical Biology

Velaglucerase alfa

(2010) Johannes M. F. G. Aerts et al.   NATURE REVIEWS DRUG DISCOVERY

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Imaging of enzyme replacement therapy using PET

(2010) C. P. Phenix et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

(2009) Tom Wennekes et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Plasma chitotriosidase and CCL18 as surrogate markers for granulomatous macrophages in sarcoidosis

(2009) Rolf G. Boot et al.   CLINICA CHIMICA ACTA

Increased chitotriosidase activity in serum of leprosy patients: Association with bacillary leprosy

(2009) Anand Iyer et al.   CLINICAL IMMUNOLOGY

Common G102S polymorphism in chitotriosidase differentially affects activity towards 4-methylumbelliferyl substrates

(2009) Anton P. Bussink et al.   FEBS Journal

Different dose-dependent correction of MIP-1β and chitotriosidase during initial enzyme replacement therapy

(2009) M. J. van Breemen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Screening for Fabry disease in high-risk populations: a systematic review

(2009) G. E. Linthorst et al.   JOURNAL OF MEDICAL GENETICS

Participation of asparagine 370 and glutamine 235 in the catalysis by acid β-glucosidase: The enzyme deficient in Gaucher disease

(2009) Benjamin Liou et al.   MOLECULAR GENETICS AND METABOLISM

Vasculopathy in patients with Fabry disease: Current controversies and research directions

(2009) S.M. Rombach et al.   MOLECULAR GENETICS AND METABOLISM

Plasma markers of coagulation and endothelial activation in Fabry disease: impact of renal impairment

(2009) A. C. Vedder et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

(2009) David Aviezer et al.   PLoS One

Glycosphingolipids and insulin resistance

(2009) Mirjam Langeveld et al.   PROGRESS IN LIPID RESEARCH

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease

(2008) Johannes M Aerts et al.   ACTA PAEDIATRICA

Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

(2008) M. de Fost et al.   ANNALS OF HEMATOLOGY

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease

(2008) M. de Fost et al.   ATHEROSCLEROSIS

Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities

(2008) Mariëlle J. van Breemen et al.   CLINICA CHIMICA ACTA

Prominent increase in plasma ganglioside GM3 is associated with clinical manifestations of type I Gaucher disease

(2008) Karen Ghauharali-van der Vlugt et al.   CLINICA CHIMICA ACTA

Diagnosis of Metachromatic Leukodystrophy by Immune Quantification of Arylsulphatase A Protein and Activity in Dried Blood Spots

(2008) Mohd. A. F. Tan et al.   CLINICAL CHEMISTRY

Covalent inhibitors of glycosidases and their applications in biochemistry and biology

(2008) B. P Rempel et al.   GLYCOBIOLOGY

A nonsense mutation in the LIMP-2 gene associated with progressive myoclonic epilepsy and nephrotic syndrome

(2008) A. Balreira et al.   HUMAN MOLECULAR GENETICS

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

(2008) J. Cox-Brinkman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

(2008) T. M. Cox et al.   JOURNAL OF INHERITED METABOLIC DISEASE

‘Non-neuronopathic’ Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature

(2008) M. Biegstraaten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Treatment of Fabry disease with different dosing regimens of agalsidase: Effects on antibody formation and GL-3

(2008) Anouk C. Vedder et al.   MOLECULAR GENETICS AND METABOLISM

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: Correlations with disease severity and response to therapeutic intervention

(2007) J GROENER   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Overweight, insulin resistance and type II diabetes in type I Gaucher disease patients in relation to enzyme replacement therapy

(2007) M. Langeveld et al.   BLOOD CELLS MOLECULES AND DISEASES

Plasma lipids are altered in Gaucher disease: Biochemical markers to evaluate therapeutic intervention

(2007) Peter J. Meikle et al.   BLOOD CELLS MOLECULES AND DISEASES

Type I Gaucher Disease, a Glycosphingolipid Storage Disorder, Is Associated with Insulin Resistance

(2007) Mirjam Langeveld et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

(2007) Christiane Auray-Blais et al.   MOLECULAR GENETICS AND METABOLISM