A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients-Reference-Cited by-同舟云学术

A study of the relationship between clinical phenotypes and plasma iduronate-2-sulfatase enzyme activities in Hunter syndrome patients

Published:2012 Issue:3 Volume:55 Page:88
ISSN:1738-1061
Container-title:Korean Journal of Pediatrics
language:en
Short-container-title:Korean J Pediatr

Author:

Lee Ok Jeong¹,Kim Su-Jin²,Sohn Young Bae¹,Park Hyung-Doo³,Lee Soo-Youn³,Kim Chi-Hwa⁴,Ko Ah-Ra⁴,Yook Yeon-Joo⁴,Lee Su-Jin⁴,Park Sung Won¹,Kim Se-Hwa¹,Cho Sung-Yoon¹,Kwon Eun-Kyung¹,Han Sun Ju¹,Jin Dong-Kyu¹

Affiliation:

1. Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

2. Center of Pediatric Oncology, National Cancer Center, Goyang, Korea.

3. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

4. Clinical Research Center, Samsung Biomedical Research Institute, Seoul, Korea.

Publisher

Korean Pediatric Society

Subject

Pediatrics,Pediatrics, Perinatology and Child Health

Link

http://kjp.or.kr/upload/pdf/kjped-55-88.pdf

Reference13 articles.

1. Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA.

2. A clinical and genetic study of Hunter's syndrome. 2 Differences between the mild and severe forms

3. Japan Elaprase® Treatment (JET) study: Idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II)

4. Molecular and phenotypic variation in patients with severe Hunter syndrome

5. Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

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