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 ...

3 Institute of Medical Genetics for Wales, University of Wales College of Medicine, Cardiff CF14 4XN, UK 4 Reproductive Biology and Genetics Group, University of Birmingham, The Medical School, ...

1 Division of Respirology, Department of Medicine, St Michael's Hospital, University of Toronto, Toronto, Ontario, Canada 2 Li Ka Shing Knowledge Institute, St Michael's Hospital, University of ...

Professor G Moore, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK; gmoore{at}ich.ucl.ac.uk Silver–Russell syndrome (SRS MIM180860) is a disorder ...

1 Zilkha Neurogenetic Institute, Keck School of Medicine, University of Southern California, Los Angeles, California, USA 2 Department of Psychiatry and Department of Preventive Medicine, Keck School ...

Background Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This report summarises the ...

Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China If you wish to reuse any ...

Correspondence to Professor Dr Leena Bruckner-Tuderman, Department of Dermatology, University Medical Center Freiburg, Hauptstr. 7, 79104 Freiburg, Germany; bruckner-tuderman{at}uniklinik-freiburg.de ...

Pain perception is a vital protective mechanism.1 However, chronic pain, maladaptive and persistent, constitutes a major disease burden.2 Reliance on opioid analgesics is fraught with risks of ...

Section of Medical Genetics and Molecular Medicine, Children's Mercy Hospitals and Clinic, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA Correspondence to: Dr M G ...

A pericentric inv(11) (pl5q23) detectable by G-, Q-, and R-banding and occuring in 1 member of each of 3 generations of a family is described. In another family studied by several banding methods in ...

Among the clusters of imprinted genes in humans, one of the most relevant regions involved in human growth is localised in 11p15. Opposite epigenetic and genomic disturbances in this chromosomal ...