Literature DB >> 29736354

Morquio Syndrome: A Case Report.

Kamleshun Ramphul1, Stephanie G Mejias2, Yogeshwaree Ramphul-Sicharam3.   

Abstract

Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio syndrome seen in a seven-year-old male from Iraq with multiple skeletal deformities.

Entities:  

Keywords:  morquio syndrome; mucopolysaccharidosis

Year:  2018        PMID： 29736354      PMCID： PMC5935432          DOI： 10.7759/cureus.2270

Source DB:  PubMed          Journal:  Cureus        ISSN： 2168-8184


  7 in total

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Journal:  Semin Roentgenol       Date:  1986-10       Impact factor: 0.800

2.  Activity of daily living for Morquio A syndrome.

Authors:  Eriko Yasuda; Yasuyuki Suzuki; Tsutomu Shimada; Kazuki Sawamoto; William G Mackenzie; Mary C Theroux; Christian Pizarro; Li Xie; Freeman Miller; Tariq Rahman; Heidi H Kecskemethy; Kyoko Nagao; Thierry Morlet; Thomas H Shaffer; Yasutsugu Chinen; Hiromasa Yabe; Akemi Tanaka; Haruo Shintaku; Kenji E Orii; Koji O Orii; Robert W Mason; Adriana M Montaño; Toshiyuki Fukao; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2016-04-25       Impact factor: 4.797

Review 3.  Trends in haematopoietic cell transplantation for inborn errors of metabolism.

Authors:  Jaap Jan Boelens
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

4.  N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease.

Authors:  J Singh; N Di Ferrante; P Niebes; D Tavella
Journal:  J Clin Invest       Date:  1976-04       Impact factor: 14.808

5.  The morquio A syndrome (mucopolysaccharidosis IVA) gene maps to 16q24.3.

Authors:  E Baker; X H Guo; A M Orsborn; G R Sutherland; D F Callen; J J Hopwood; C P Morris
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

6.  Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.

Authors:  Christian J Hendriksz; Roberto Giugliani; Paul Harmatz; Eugen Mengel; Nathalie Guffon; Vassili Valayannopoulos; Rossella Parini; Derralynn Hughes; Gregory M Pastores; Heather A Lau; Moeenaldeen D Al-Sayed; Julian Raiman; Ke Yang; Matthew Mealiffe; Christine Haller
Journal:  Mol Genet Metab       Date:  2014-09-06       Impact factor: 4.797

7.  Various cells retrovirally transduced with N-acetylgalactosoamine-6-sulfate sulfatase correct Morquio skin fibroblasts in vitro.

Authors:  G Toietta; G M Severini; C Traversari; S Tomatsu; K Sukegawa; S Fukuda; N Kondo; P Tortora; C Bordignon
Journal:  Hum Gene Ther       Date:  2001-11-01       Impact factor: 5.695
  7 in total
  1 in total

1.  A case study of three patients with mucopolysaccharidoses in Hue Central Hospital.

Authors:  Tran Kiem Hao; Nguyen Thi Diem Chi; Nguyen Thi Hong Duc; Nguyen Thi Kim Hoa
Journal:  SAGE Open Med Case Rep       Date:  2020-06-29
  1 in total

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