Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

Enzyme Replacement Therapy in Fabry Disease: Influence on Cardiac Manifestations

(2010) L. Caballero et al.   CURRENT MEDICINAL CHEMISTRY

Vulvar angiokeratoma

(2010) R. S. Nomelini et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

Hereditary hemorrhagic telangiectasia: from molecular biology to patient care

(2010) S. DUPUIS-GIROD et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

Confidentiality and sharing genetic information with relatives

(2010) Anneke Lucassen et al.   LANCET

Anderson-Fabry Disease and the Heart

(2010) Constantinos O'Mahony et al.   PROGRESS IN CARDIOVASCULAR DISEASES

Fabry disease: a review of current management strategies

(2010) A. Mehta et al.   QJM-AN INTERNATIONAL JOURNAL OF MEDICINE

Functional studies of new GLA gene mutations leading to conformational fabry disease

(2009) C. Filoni et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Hereditary hemorrhagic telangiectasia

(2009) A. Grand'Maison   CANADIAN MEDICAL ASSOCIATION JOURNAL

Enzyme Replacement Therapy for Fabry Disease

(2009) Roland M. Schaefer et al.   DRUGS

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Hereditary haemorrhagic telangiectasia: a clinical and scientific review

(2009) Fatima S Govani et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease

(2009) Chantal F Morel et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

(2009) Stephen Waldek et al.   GENETICS IN MEDICINE

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

Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey

(2009) A. Keilmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin 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

The 1.9 Å Structure of Human α-N-Acetylgalactosaminidase: The Molecular Basis of Schindler and Kanzaki Diseases

(2009) Nathaniel E. Clark et al.   JOURNAL OF MOLECULAR BIOLOGY

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Efficacité clinique de l’enzymothérapie dans la maladie de Fabry. Analyse critique

(2009) O. Lidove et al.   REVUE DE MEDECINE INTERNE

Frequency of Unrecognized Fabry Disease Among Young European-American and African-American Men With First Ischemic Stroke

(2009) Marcella A. Wozniak et al.   STROKE

Rescue of mutant α-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

(2008) Ryoji Hamanaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Why rare diseases are an important medical and social issue

(2008) Arrigo Schieppati et al.   LANCET

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

(2008) Robert J Hopkin et al.   PEDIATRIC RESEARCH

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

(2008) Sang H. Shin et al.   Pharmacogenetics and Genomics

Screening for Fabry Disease in Patients with Chronic Kidney Disease: Limitations of Plasma  -Galactosidase Assay as a Screening Test

(2007) J. Andrade et al.   Clinical Journal of the American Society of Nephrology

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

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