Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux–Lamy syndrome): under-recognized and challenging to diagnose

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Mucopolysaccharidosis type IV (Morquio syndrome).

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INTRODUCTION Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intrav...

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ژورنال

عنوان ژورنال: Skeletal Radiology

سال: 2014

ISSN: 0364-2348,1432-2161

DOI: 10.1007/s00256-013-1797-y