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Overcoming the barriers to diagnosis of Morquio A syndrome

Bhattacharya K 1 , Balasubramaniam S 2 , Choy YS 3 , Fietz M 4 , Fu A 5 , Jin DK 6 Show all authors , Kim OH 7 , Kosuga M 8 , Kwun YH 9 , Inwood A 10 , Lin HY 11 , McGill J 12 , Mendelsohn NJ 13 , Okuyama T 14 , Samion H 15 , Tan A 16 , Tanaka A 17 , Thamkunanon V 18 , Toh TH 19 , Yang AD 20 , Lin SP 21

Affiliations 

  • 1 Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Hawkesbury Rd & Hainsworth St, Westmead, Sydney, NSW, Australia. kaustuv.bhattacharya@health.nsw.gov.au
  • 2 Metabolic Unit, Princess Margaret Children's Hospital, Roberts Rd, Subiaco, WA, 6008, Australia. Shanti.Balasubramaniam@health.wa.gov.au
  • 3 Prince Court Medical Center, 39 Jalan Kia Peng, 50450, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia. yewsing.choy@princecourt.com
  • 4 SA Pathology (at Women's and Children's Hospital), 72 King William Rd, North Adelaide, SA, 5006, Australia. Michael.Fietz@health.sa.gov.au
  • 5 Prince of Wales Hospital, 30-32 Ngan Shing Street, Sha Tin, NT, Hong Kong. antonyccfu@gmail.com
  • 6 Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea. Jindk@skku.edu
  • 7 Department of Radiology, Woorisoa Children's Hospital, Guro-gu, Seoul, 152-862, South Korea. kimoh5828@gmail.com
  • 8 Department of Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. kosuga-mo@ncchd.go.jp
  • 9 Department of Pediatrics, Samsung Medical Center, Irwon-Dong, Gangnam-Gu, Seoul, South Korea. younghee.kwun@samsung.com
  • 10 Department of Metabolic Medicine, Royal Children's Hospital, Herston, QLD, 4006, Australia. Anita.Inwood@health.qld.gov.au
  • 11 Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City, 10449, Taiwan. lxc46199@ms37.hinet.net
  • 12 Department of Metabolic Medicine, Royal Children's Hospital, Herston, QLD, 4006, Australia. Jim.McGill@health.qld.gov.au
  • 13 Children's Hospitals & Clinics of Minnesota, 2525 Chicago Ave, Minneapolis, MN, USA. Nancy.Mendelsohn@childrensmn.org
  • 14 Department of Laboratory Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan. tora@nch.go.jp
  • 15 National Heart Institute, 145 Jalan Tun Razak, 50586, Kuala Lumpur, Wilayah Persekutuan Kuala Lumpur, Malaysia. shasri@ijn.com.my
  • 16 Ipoh Specialist Hospital, Ipoh, Perak, Malaysia. adelinetanailin@gmail.com
  • 17 Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi, Abeno-ku, Osaka, 545-8585, Japan. akemi-chan@med.osaka-cu.ac.jp
  • 18 Queen Sirikit National Institute of Child Health, 420/8, Ratchawithi Road, Thung Phaya Thai, Khet Ratchathewi, Bangkok, 10400, Thailand. sivtk@hotmail.com
  • 19 Department of Paediatrics and Clinical Research Centre, Sibu Hospital, KM 5 1/2, Jalan Ulu Oya, 96000, Sibu, Sarawak, Malaysia. thtoh@yahoo.com
  • 20 Changhua Christian Hospital, 135 Nanxiao St, Changhua City, Changhua County, 526, Taiwan. 27730@cch.org.tw
  • 21 Department of Pediatrics, Mackay Memorial Hospital, No. 92, Sec. 2, Zhongshan N. Road, Taipei City, 10449, Taiwan. zsplin14@gmail.com
Orphanet J Rare Dis, 2014;9:192.
PMID: 25433535 DOI: 10.1186/s13023-014-0192-7

Abstract

Morquio A syndrome is an autosomal recessive lysosomal storage disease often resulting in life-threatening complications. Early recognition and proficient diagnosis is imperative to facilitate prompt treatment and prevention of clinical complications.

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

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