Coronary microvascular dysfunction is an early feature of cardiac involvement in patients with Anderson-Fabry disease

Neonatal screening for lysosomal storage disorders: feasibility and incidence from a nationwide study in Austria

(2012) Thomas P Mechtler et al.   LANCET

Pharmacological chaperone therapy for Fabry disease

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

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene

(2011) L Ferri et al.   CLINICAL GENETICS

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

(2011) Caterina Porto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The coronary circulation and blood flow in left ventricular hypertrophy

(2011) Paolo G. Camici et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations

(2011) Iacopo Olivotto et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Differences in Fabry Cardiomyopathy Between Female and Male Patients

(2011) Markus Niemann et al.   JACC-Cardiovascular Imaging

Cardiac energy metabolism is disturbed in Fabry disease and improves with enzyme replacement therapy using recombinant human galactosidase A

(2010) Wolfram Machann et al.   EUROPEAN JOURNAL OF HEART FAILURE

Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review

(2010) Louise LC Pinto et al.   Orphanet Journal of Rare Diseases

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Anderson-Fabry Disease and the Heart

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

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy

(2009) Frank Weidemann et al.   CIRCULATION

The Case for Myocardial Ischemia in Hypertrophic Cardiomyopathy

(2009) Martin S. Maron et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography

(2009) Sherif F. Nagueh et al.   JOURNAL OF THE AMERICAN SOCIETY OF ECHOCARDIOGRAPHY

Spatial Relationship Between Coronary Microvascular Dysfunction and Delayed Contrast Enhancement in Patients with Hypertrophic Cardiomyopathy

(2008) B. Sotgia et al.   JOURNAL OF NUCLEAR MEDICINE

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

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