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A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Leadley RM 1 , Lang S 2 , Misso K 3 , Bekkering T 4 , Ross J 5 , Akiyama T 6 Show all authors , Fietz M 7 , Giugliani R 8 , Hendriksz CJ 9 , Hock NL 10 , McGill J 11 , Olaye A 12 , Jain M 13 , Kleijnen J 14

Affiliations 

  • 1 Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK. Regina@systematic-reviews.com
  • 2 Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK. Shona@systematic-reviews.com
  • 3 Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK. Kate@systematic-reviews.com
  • 4 BeSyReBekkering Systematic Reviews, Geel, Belgium. Trudy.Bekkering@med.kuleuven.be
  • 5 Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK. Janine@systematic-reviews.com
  • 6 Japan society of patients and families with Mucopolysaccharidoses, 2-37-3, Minamisyojyaku, Suita-Shi, Osaka, 564-0012, Japan. mps_office@mps-japan.org
  • 7 Department of Biochemical Genetics, SA Pathology (at WCH), 72 King William Road, North Adelaide, SA, 5006, Australia. michael.fietz@health.sa.gov.au
  • 8 Chief of the Medical Genetics Service, Clinic Hospital of Porto, Porto Alegre, Rio Grande do Sul, Brazil. rgiugliani@hcpa.ufrgs.br
  • 9 Clinical lead- Adult Inherited Metabolic Disorders, Consultant Transitional Metabolic Medicine, Manchester Academic Health Science Centre, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Ladywell NW2- 2nd Floor Room 107, Salford, Manchester, M6 8H, UK. Chris.Hendriksz@srft.nhs.uk
  • 10 Consultant Pediatrician and Clinical Geneticist, Clinical Genetics & Metabolic Department, Kuala Lumpur Hospital, Jalan Pahang, Kuala Lumpur, 50586, Malaysia. ngulh@hotmail.com
  • 11 Metabolic physician and Clinical geneticist Department of Metabolic Medicine, Royal Children's Hospital, Brisbane, Australia. jim.mcgill@health.qld.gov.au
  • 12 Snr Market Access Manager EUMEA, BioMarin Europe Ltd, 164 Shaftesbury Ave, London, WC2H 8HL, United Kingdom. AOlaye@bmrn.com
  • 13 Market Access & Public Policy EUMEA BioMarin Europe Ltd, 164 Shaftesbury Ave, London, WC2H 8HL, United Kingdom. MJain@bmrn.com
  • 14 Kleijnen Systematic Reviews, Unit 6, Escrick Business Park, Escrick, York, YO19 6FD, UK. Jos@systematic-reviews.com
Orphanet J Rare Dis, 2014;9:173.
PMID: 25404155 DOI: 10.1186/s13023-014-0173-x

Abstract

Morquio A (MPS IVA) is a rare disease characterised by a deficiency of N-acetylgalactosamine-6 sulfatase (GALNS) and presenting with short stature, abnormal gait, cervical spine instability and shortened lifespan.

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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