Background Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy and early demise. We ...

Drug Research and Medical Biotechnology, Fraunhofer Institute of Toxicology and Experimental Medicine, Nikolai-Fuchs-Strasse 1, D-30625 Hanover, Germany Correspondence to: J Borlak Drug Research and ...

Background Two recombinant enzymes (agalsidase alfa 0.2 mg/kg/every other week and agalsidase beta 1.0 mg/kg/every other week) have been registered for the treatment of Fabry disease (FD), at equal ...

Mammalian experiments provide clear evidence of male line transgenerational effects on health and development from paternal or ancestral early-life exposures such as diet or stress. The few human ...

The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference, leading to a lean body habitus and short stature. Facial dysmorphism ...

1 Centre for Child Health Research, University of Western Australia, Telethon Institute for Child Health Research, Perth, Western Australia 2 School of Paediatrics and Child Health, University of ...

1 The Wellcome Trust Centre for Cell-Matrix Research, University of Manchester, Manchester, UK 2 Arthritis Research Campaign Epidemiology Research Unit, University of Manchester, Manchester, UK 3 ...

Background Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with ...

Type 2 diabetes mellitus is a common multifactorial genetic syndrome, which is determined by several different genes and environmental factors. It now affects 150 million people world wide but its ...

1 Department of Anesthesiology, Molecular Epidemiology of Pain Program, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA 2 Department of Neurobiology, Molecular Epidemiology ...

Hirschsprung disease (HSCR, aganglionic megacolon) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. This developmental disorder is a ...

1 Department of Laboratory Medicine and Pathobiology, St Michael’s Hospital Toronto, Canada 2 Cancer Research Program, The Hospital for Sick Children, Department of Immunology and Heart & Stroke ...