Svensk definition
Mukopolysackaridos kännetecknad av onormalt höga halter av dermatan- och heparansulfat i urinen, och Hurlerliknande drag. Sjukdomen beror på brist på beta-glukuronidas (EC 3.2.1.31).
Mucopolysaccharidosis VII
Mukopolysackaridos VII
Engelsk definition
Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
Svenska synonymer
Slys syndrom
Engelska synonymer
Mucopolysaccharidosis VIIs — VIIs, Mucopolysaccharidosis — Sly Disease — Disease, Sly — beta-Glucuronidase Deficiency — Deficiencies, beta-Glucuronidase — Deficiency, beta-Glucuronidase — beta Glucuronidase Deficiency — beta-Glucuronidase Deficiencies — GUSB Deficiency — Deficiencies, GUSB — Deficiency, GUSB — GUSB Deficiencies — Mucopolysaccharidosis Type VII — Mucopolysaccharidosis Type VIIs — Type VII, Mucopolysaccharidosis — Type VIIs, Mucopolysaccharidosis — Mucopolysaccharidosis 7 — Sly Syndrome — Syndrome, Sly