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Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

13 Jun 2019

Abstract excerpt

INTRODUCTION: Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation of keratan sulphate and chondroitin-6-sulphate. The multiple clinical manifestations of MPS IVA present numerous challenges for management and necessitate the need for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31196221
DOI: 10.1186/s13023-019-1074-9

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