Background Complex regional pain syndrome type 1 (CRPS-1) is a rare, disabling and sometimes chronic disorder usually arising after a trauma. This exploratory study examined whether patients with ...

Correspondence to Dr Katharina Wimmer, Medical University of Innsbruck, Division of Human Genetics, Peter-Mayr-Strasse 1, Innsbruck 6020, Austria; katharina.wimmer{at}i-med.ac.at Due to the ...

Correspondence to Dr Chen Jin-Lian, Department of Gastroenterology, Shanghai Sixth People's Hospital (South), Shanghai Jiaotong University School of Medicine, Shanghai, China; wqq_021002{at}163.com or ...

1 Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 2 Department of Pathology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands 3 ...

1 Merseyside and Cheshire Clinical Genetics Service, Royal Liverpool Children’s Hospital, Alder Hey, Eaton Road, Liverpool L12 2AP, UK 2 Merseyside and Cheshire Molecular Genetics Laboratory, ...

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 ...

1 Department of Neurology, National Neuroscience Institute, Tan Tock Seng Hospital, Singapore 2 Department of Neurology, National Neuroscience Institute, Singapore General Hospital, Singapore 3 ...

Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas, USA Dr S R Lalani, Department of Molecular and Human Genetics, One Baylor Plaza, BCM225, MARB, R713, ...

Correspondence to Dr Norbert Weiss, Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Praha 166 10, Czech Republic; weiss{at}uochb.cas.cz; Dr Gerald W Zamponi, Department of ...

The Smith-Lemli-Opitz syndrome (SLOS) is one of the archetypical multiple congenital malformation syndromes. The recent discovery of the biochemical cause of SLOS and ...

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 ...

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 ...