Article
The articular and the craniocervical abnormalities are of confusing age of onset in patients with Maroteaux-Lamy disease (MPS VI).
Minerva pediatrics - 1 Apr 2023
Al Kaissi Ali, Ryabykh Sergey, Ochirova Polina, Kareem Adel A, Kenis Vladimir, Ganger Rudolf, Grill Franz, Kircher Susanne G
Abstract excerpt
BACKGROUND: Maroteaux-Lamy disease (MPS Type VI) is an autosomal recessive lysosomal storage disorder. Skeletal abnormalities are vast. Early recognition may facilitate timely diagnosis and intervention, leading to improved patient outcomes. The most challenging is when patients manifest a constellation of craniocervical and articular deformities with variable age of onset. METHODS: We collected 15 patients with...
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