[Mucopolysaccharidosis of the Pfaundler-Hurler type with spastic tetraparesis and retinitis pigmentosa of two adult sisters].
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000145:classification; D002807:Chondroitin / Q000652:urine; D004485:Eczema / Q000150:complications; D005260:Female; D005350:Fibroma / Q000150:complications; D006025:Glycosaminoglycans / Q000378:metabolism / Q000652:urine; D006618:Hip Dislocation, Congenital / Q000150:complications / Q000235:genetics; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000235:genetics*; D009128:Muscle Spasticity / Q000150:complications; D009508:Nevus, Pigmented / Q000150:complications; D011565:Psoriasis / Q000150:complications; D011782:Quadriplegia / Q000150:complications*; D012174:Retinitis Pigmentosa / Q000150:complications*; D012878:Skin Neoplasms / Q000150:complications; D013577:Syndrome
D006025:Glycosaminoglycans; D002807:Chondroitin
Mukopolysaccharidose vom Typ Pfaundler-Hurler mit spastischer Tetraparese und Retinitis pigmentosa bei zwei erwachsenen Schwestern.