Search

Author/Creator Sohn, Young Bae

2. Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype. Issue 29 (July 2017)

Authors:
Choi, Jin-Ho; Lee, Beom Hee; Heo, Sun Hee; Kim, Gu-Hwan; Kim, Yoo-Mi; Kim, Dae-Seong; Ko, Jung Min; Sohn, Young Bae; Hong, Yong Hee; Lee, Dong-Hwan; Kook, Hoon; Lim, Han Hyuk; Kim, Kyung Hee; Kim, Woo-Shik; Hong, Geu-Ru; Kim, Su-Hyun; Park, Sang Hyun; Kim, Chan-Duck; Kim, So Mi; Seo, Jeong-Sook
Other Names:
Liu. Jian section editor.
Journal:
Medicine
Issue:
Volume 96:Issue 29(2017)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA12. Issue 3 (8th February 2013)

Authors:
Park, Hyung‐Doo; Ko, Ah‐Ra; Ki, Chang‐Seok; Lee, Soo‐Youn; Kim, Jong‐Won; Cho, Sung Yoon; Kim, Se Hwa; Park, Sung Won; Sohn, Young Bae; Jin, Dong‐Kyu
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 3(2013:Mar.)
Page Start:
509
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta. Issue 2 (February 2015)

Authors:
Cho, Sung Yoon; Asharani, P.V.; Kim, Ok‐Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang‐Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong‐Kyu
Journal:
Human mutation
Issue:
Volume 36:Issue 2(2015:Feb.)
Page Start:
191
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

9. The efficacy of intracerebroventricular idursulfase‐beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology. Issue 6 (5th July 2018)

Authors:
Sohn, Young Bae; Ko, Ah‐Ra; Seong, Mi‐ran; Lee, Soyeon; Kim, Mi Ra; Cho, Sung Yoon; Kim, Jung‐Sun; Sakaguchi, Makoto; Nakazawa, Takahiro; Kosuga, Motomichi; Seo, Joo Hyun; Okuyama, Torayuki; Jin, Dong‐Kyu
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 6(2018)
Page Start:
1235
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗