Chromosomal instability syndromes—the most classical and representative types of rare diseases
Rare Diseases Column (Zhanhe Wu)
Phenotypes and genotypes of the chromosomal instability syndromes
Paediatric Fabry disease
Phenylketonuria: a review of current and future treatments
How to make the timely diagnosis to stabilize disease progression and prevent the organ damage from Fabry disease?
Where will genetic research take us?
Challenges and opportunities in the studies on rare diseases
Investigation and management of the hepatic glycogen storage diseases