Aimed at primary care health professionals, our factsheets outline the key facts of each condition, plus clinical features, diagnosis, management and treatment.

34 documents

Glutaric aciduria type I

Haemophilia A and B

Hereditary breast and ovarian cancer

Isovaleric acidaemia

Juvenile polyposis syndrome

Long QT syndrome

Lynch syndrome

Maple syrup urine disease

Marfan syndrome

Maturity onset diabetes of the young

Medium-chain acyl-CoA dehydrogenase deficiency

Multiple endocrine neoplasia type 1