Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

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

(2011) Johannes M. F. G. Aerts et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A reappraisal of Gaucher disease-diagnosis and disease management algorithms

(2010) Pramod K. Mistry et al.   AMERICAN JOURNAL OF HEMATOLOGY

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

A validated disease severity scoring system for adults with type 1 Gaucher disease

(2010) Neal J Weinreb et al.   GENETICS IN MEDICINE

Disease severity in sibling pairs with type 1 Gaucher disease

(2010) Deborah Elstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

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

ACTH protects against glucocorticoid-induced osteonecrosis of bone

(2010) M. Zaidi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

(2009) Tamar H. Taddei et al.   AMERICAN JOURNAL OF HEMATOLOGY

Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis

(2009) Pramod K. Mistry et al.   BRITISH JOURNAL OF HAEMATOLOGY

Case-control association testing in the presence of unknown relationships

(2009) Yoonha Choi et al.   GENETIC EPIDEMIOLOGY

Acid β-Glucosidase 1 Counteracts p38δ-dependent Induction of Interleukin-6

(2009) Kazuyuki Kitatani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Missense single nucleotide polymorphism of the ADAM12 gene is associated with radiographic knee osteoarthritis in middle-aged Estonian cohort

(2009) I. Kerna et al.   OSTEOARTHRITIS AND CARTILAGE

Vitamin D Receptor (VDR) Polymorphisms in the Cardiac Variant of Gaucher Disease

(2009) Allen Greenwood et al.   PEDIATRIC CARDIOLOGY

BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources

(2009) Chunlei Wu et al.   GENOME BIOLOGY

A benchmark analysis of the achievement of therapeutic goals for type 1 Gaucher disease patients treated with imiglucerase

(2008) Neal Weinreb et al.   AMERICAN JOURNAL OF HEMATOLOGY

SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap

(2008) A. D. Johnson et al.   BIOINFORMATICS

Plasmalogen levels in Gaucher disease

(2008) Marina Moraitou et al.   BLOOD CELLS MOLECULES AND DISEASES

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

High-Resolution Mapping of Expression-QTLs Yields Insight into Human Gene Regulation

(2008) Jean-Baptiste Veyrieras et al.   PLoS Genetics