Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry disease.

A symptomatic Fabry disease mouse model generated by inducing globotriaosylceramide synthesis

(2013) Atsumi Taguchi et al.   BIOCHEMICAL JOURNAL

Cost-effectiveness of enzyme replacement therapy for Fabry disease

(2013) Saskia M Rombach et al.   Orphanet Journal of Rare Diseases

Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain

(2013) Saskia M Rombach et al.   Orphanet Journal of Rare Diseases

Cell-specific in vivo functions of glycosphingolipids: Lessons from genetic deletions of enzymes involved in glycosphingolipid synthesis

(2013) Richard Jennemann et al.   PROGRESS IN LIPID RESEARCH

Globosides but Not Isoglobosides Can Impact the Development of Invariant NKT Cells and Their Interaction with Dendritic Cells

(2012) S. Porubsky et al.   JOURNAL OF IMMUNOLOGY

Agalsidase Benefits Renal Histology in Young Patients with Fabry Disease

(2012) C. Tondel et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Enzyme replacement therapy in patients with Fabry disease: State of the art and review of the literature

(2012) Antonio Pisani et al.   MOLECULAR GENETICS AND METABOLISM

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

(2012) Aurelie Nguyen Dinh Cat et al.   PLoS One

Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary (lyso)Gb3 Reduction and Treatment Outcome

(2012) Saskia M. Rombach et al.   PLoS One

Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution

(2012) Maciej Machaczka et al.   UPSALA JOURNAL OF MEDICAL SCIENCES

How I treat Gaucher disease

(2011) A. Zimran   BLOOD

Myocardial Alterations in the Murine Model of Fabry Disease Can Be Reversed by Enzyme Replacement Therapy

(2011) Paula A. Rozenfeld et al.   CANADIAN JOURNAL OF CARDIOLOGY

Fabry disease, enzyme replacement therapy and the significance of antibody responses

(2011) Patrick B. Deegan   JOURNAL OF INHERITED METABOLIC DISEASE

Shiga toxin glycosphingolipid receptors in microvascular and macrovascular endothelial cells: differential association with membrane lipid raft microdomains

(2011) Josefine Betz et al.   JOURNAL OF LIPID RESEARCH

Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry

(2011) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM

Wnt Signaling Is Critical for Maladaptive Cardiac Hypertrophy and Accelerates Myocardial Remodeling

(2010) Pratima Malekar et al.   HYPERTENSION

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

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

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

(2010) John Marshall et al.   PLoS One

A detailed pathologic examination of heart tissue from three older patients with Anderson–Fabry disease on enzyme replacement therapy

(2009) Mary N. Sheppard et al.   CARDIOVASCULAR PATHOLOGY

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

Reduced α-Gal A enzyme activity in Fabry fibroblast cells and Fabry mice tissues induced by serum from antibody positive patients with Fabry disease

(2008) Toya Ohashi et al.   MOLECULAR GENETICS AND METABOLISM

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice

(2008) L.G. Rodrigues et al.   NEUROBIOLOGY OF DISEASE

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

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

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