Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA-Reference-Cited by-同舟云学术

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Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

Published:2012 Issue:11 Volume:55 Page:430
ISSN:1738-1061
Container-title:Korean Journal of Pediatrics
language:en
Short-container-title:Korean J Pediatr

Author:

Lee Na Hee¹,Cho Sung Yoon¹,Maeng Se Hyun¹,Jeon Tae Yeon²,Sohn Young Bae³,Kim Su Jin⁴,Park Hyung-Doo⁵,Jin Dong Kyu¹

Affiliation:

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

2. Department of Radiology & Center for Imaging Science, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea.

3. Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.

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

5. Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea.

Publisher

Korean Pediatric Society

Subject

Pediatrics,Pediatrics, Perinatology and Child Health

Link

http://kjp.or.kr/upload/pdf/kjped-55-430.pdf

Reference25 articles.

1. The Enzymic Defects in Morquio and Maroteaux-Lamy Syndrome

2. Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate

3. Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

4. The mucopolysaccharidoses: a clinical review and guide to management.

Cited by 9 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV);Pediatric Radiology;2023-01-11

2. Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA;Molecular Genetics and Metabolism Reports;2022-06

3. Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants;Human Mutation;2021-08-23

4. Mutation spectrum and pivotal features for differential diagnosis of Mucopolysaccharidosis IVA patients with severe and attenuated phenotype;Gene;2019-07

5. Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study;Orphanet Journal of Rare Diseases;2019-06-14

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