7 results  1 of 1 

1 First Case of Peroxisomal D-bifunctional Protein Deficiency with Novel HSD17B4 Mutations and Progressive Neuropathy in Korea
Eun Young Bae, Yoonyoung Yi, Han Hyuk Lim, Jiwon M. Lee, Bongjin Lee, Seung Yeon Kim, Yoo-Mi Kim
J Korean Med Sci.2020;35(39):e357.  Published online 2020 September 28     DOI: http://dx.doi.org/10.3346/jkms.2020.35.e357
      
2 Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing
Young-Lim Shin, You Na Park, Mi-Ae Jang
J Korean Med Sci.2020;35(10):e96.  Published online 2020 February 26     DOI: http://dx.doi.org/10.3346/jkms.2020.35.e96
      
3 Effects of Copy Number Variations on Developmental Aspects of Children With Delayed Development
Kee-Boem Park, Kyung Eun Nam, Ah-Ra Cho, Woori Jang, Myungshin Kim, Joo Hyun Park
Ann Rehabil Med.2019;43(2):215-223.   Published online 2019 April 30     DOI: http://dx.doi.org/10.5535/arm.2019.43.2.215
      
4 Experience with reversal of a neuromuscular block with sugammadex in a child with Prader–Willi syndrome - A case report -
Tae-Yun Sung, Taehoon Kang, Choon-kyu Cho, Hee Uk Kwon, Po-Soon Kang, Young Seok Jee
Anesth Pain Med.2017;12(4):335-338.   Published online 2017 October 31     DOI: http://dx.doi.org/10.17085/apm.2017.12.4.335
      
5 Anesthetic considerations in a child with Sotos syndrome -A case report-
Joo-Young Chung, Gahyun Kim, Ju-Hun Park, Hyen Kyu Choi, Byoung Hark Park, Mi Young Choi, Jong-Sool Kim
Anesth Pain Med.2017;12(3):240-242.   Published online 2017 July 31     DOI: http://dx.doi.org/10.17085/apm.2017.12.3.240
      
6 Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations
Eun Hye Lee, Mi-Sun Yum, Seong Jong Park, Beom Hee Lee, Gu-Hwan Kim, Han-Wook Yoo, Tae-Sung Ko
J Clin Neurol.2013;9(1):57-60.   Published online 2013 January 3     DOI: http://dx.doi.org/10.3988/jcn.2013.9.1.57
      
7 X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
Ji Hyun Jeon, Ran Namgung, Min Soo Park, Kook In Park, Chul Lee, Jin Sung Lee, Se Hoon Kim
Yonsei Med J.2011;52(3):547-550.   Published online 2011 April 6     DOI: http://dx.doi.org/10.3349/ymj.2011.52.3.547
      

 1 of 1