The mucopolysaccharidoses.
The experience of the Royal Children's Hospital in managing patients with mucopolysaccharidosis is discussed. All share the common feature of abnormal storage, within lysosomes, of partially degraded glycosaminoglycans, but different diseases within the group as a whole present different problems. The presentation, diagnosis and clinical outcome of 69 affected children are described.
D002648:Child; D005260:Female; D006801:Humans; D009083:Mucopolysaccharidoses / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000652:urine; D011247:Pregnancy