A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

Screening of Male Dialysis Patients for Fabry Disease by Plasma Globotriaosylsphingosine

(2013) H. Maruyama et al.   Clinical Journal of the American Society of Nephrology

LC–MS/MS analysis of plasma lyso-Gb3 in Fabry disease

(2012) Michel Boutin et al.   CLINICA CHIMICA ACTA

Pharmacological chaperone therapy for Fabry disease

(2012) Satoshi ISHII   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

IRS2 increases mitochondrial dysfunction and oxidative stress in a mouse model of Huntington disease

(2011) Marianna Sadagurski et al.   JOURNAL OF CLINICAL INVESTIGATION

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease

(2011) Karen M. Ashe et al.   PLoS One

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

Increased globotriaosylceramide levels in a transgenic mouse expressing human  1,4-galactosyltransferase and a mouse model for treating Fabry disease

(2010) C. Shiozuka et al.   JOURNAL OF BIOCHEMISTRY

Substrate Reduction Augments the Efficacy of Enzyme Therapy in a Mouse Model of Fabry Disease

(2010) John Marshall et al.   PLoS One

Kidney dendritic cell activation is required for progression of renal disease in a mouse model of glomerular injury

(2009) Felix Heymann et al.   JOURNAL OF CLINICAL INVESTIGATION

Renal Biopsy Findings in Children and Adolescents With Fabry Disease and Minimal Albuminuria

(2008) Camilla Tøndel et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

(2008) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease

(2008) S. Ishii et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

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

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM