BMJ journal “Archives of Disease in Childhood” publishes education and practice notes on Creatine Kinase, including its role in signposting GSDs.
Recent sales in Eastern Europe and the Middle East mean “The McArdle Disease Handbook” has reached patients and professionals in 30 countries.
A paper in the journal “Human Molecular Genetics” reviews the development of gene therapy for glycogen storage diseases.
“So Chocolate Bar” – 6 years later and one boy’s idea to help his friend with GSD1b is leading to scientific breakthroughs.
Ultragenyx and Arcturus announce expansion of their research collaboration to develop gene therapies for rare diseases.
Under a plan by the NHS Genomic Medicine Service, genome sequencing is set to revolutionise the diagnosis of rare childhood conditions.