Progression of eye disease over 15 years in a patient with mucopolysaccharidosis type VI on enzyme replacement therapy
| Autor: | Simon Jones, Martin P. Smith, Mohammad Waseem Sarfraz, Jane Ashworth |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty genetic structures Images In… Eye Diseases Eye disease Mucopolysaccharidosis Mucopolysaccharidosis type VI Lysosomal storage disorders 030105 genetics & heredity 03 medical and health sciences 0302 clinical medicine Corneal clouding medicine Humans Enzyme Replacement Therapy Mucopolysaccharidosis VI business.industry General Medicine Enzyme replacement therapy medicine.disease Dermatology Recombinant Proteins sense organs business 030217 neurology & neurosurgery |
| Zdroj: | BMJ Case Rep |
| Popis: | We present a case report of a 24-year-old Caucasian man with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy) who has documented progression of visual loss and corneal clouding over 18 years of follow-up. The MPSs are a group of inherited lysosomal storage disorders resulting from abnormalities |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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