Improving the lives of children with neurofibromatosis type 1

by Yoo-Mi Kim
Published 2021-04-01

The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation

by Young A Kim, Yoo-Mi Kim, Yun-Jin Lee, Chong Kun Cheon
Published 2017-12-01

Single random measurement of urinary gonadotropin concentration for screening and monitoring girls with central precocious puberty

by Se Young Lee, Ji Myung Kim, Yoo Mi Kim, Han Hyuk Lim
Published 2021-09-01

Psychometric properties of the Korean version of the Copenhagen Burnout Inventory in Korean homecare workers for older adults.

by Gyeong-Suk Jeon, Sun-Ju You, Myo-Gyeong Kim, Yoo-Mi Kim, Sung-Il Cho
Published 2019-01-01

Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome

by Yoo-Mi Kim, Yeoun Joo Lee, Soo Yeon Kim, Chong Kun Cheon, Han Hyuk Lim
Published 2020-03-01

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy

by Yoo-Mi Kim, Dong Hoon Shin, Su Bum Park, Chong Kun Cheon, Han-Wook Yoo
Published 2017-05-01

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

by Yoo-Mi Kim, Jin-Ho Choi, Beom-Hee Lee, Gu-Hwan Kim, Kyung-Mo Kim, Han-Wook Yoo
Published 2020-02-01

Spontaneous Absorption of a Lumbar Epidural Hematoma after Interlaminar Epidural Steroid Injection in a Patient with Spinal Stenosis: Close Observation as a Treatment Strategy

by Soo Hyang Kim, Yun Joung Han, Young Hoon Kim, Jae Min Lee, Yoo Mi Kim, Hue Jung Park
Published 2018-01-01

Chronic intermittent form of isovaleric aciduria in a 2-year-old boy

by Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo
Published 2013-08-01

Turner syndrome with primary hyperparathyroidism

by Jungmee Park, Yoo-Mi Kim, Jin-Ho Choi, Beom Hee Lee, Jong Ho Yoon, Woon-Young Jeong, Han-Wook Yoo
Published 2013-06-01

Lowe syndrome: a single center's experience in Korea

by Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
Published 2014-03-01

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome

by Kyo Jin Jo, Yoo Mi Kim, Ju Young Yoon, Yeoun Joo Lee, Young Mi Han, Han-Wook Yoo, Hyang-Sook Kim, Chong Kun Cheon
Published 2019-07-01

Autosomal dominant transmission of complicated hereditary spastic paraplegia due to a dominant negative mutation of KIF1A, SPG30 gene

by Chong Kun Cheon, So-Hee Lim, Yoo-Mi Kim, Doyoun Kim, Na-Yoon Lee, Tae-Sung Yoon, Nam-Soon Kim, Eunjoon Kim, Jae-Ran Lee
Published 2017-10-01

Pancreatic involvement in patients with inborn errors of metabolism

by Woo Jin Hwang, Han Hyuk Lim, Yoo-Mi Kim, Mea Young Chang, Hong Ryang Kil, Jae Young Kim, Wung Joo Song, Harvey L. Levy, Sook-Za Kim
Published 2021-01-01

A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture

by Ji-Yeon Song, Sue-Jean Mun, Soon-Ki Sung, Jae-Yeon Hwang, Seung-Kug Baik, Jee Yeon Kim, Chong-Kun Cheon, Su-Young Kim, Yoo-Mi Kim
Published 2017-09-01

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects

by Yoo-Mi Kim, Jin-Ho Choi, Gu-Hwan Kim, Young Bae Sohn, Jung Min Ko, Beom Hee Lee, Chong Kun Cheon, Han Hyuk Lim, Sun-Hee Heo, Han-Wook Yoo
Published 2020-11-01

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies

by Yoo-Mi Kim, Ja Hye Kim, Jin-Ho Choi, Gu-Hwan Kim, Jae-Min Kim, Minji Kang, In-Hee Choi, Chong Kun Cheon, Young Bae Sohn, Marco Maccarana, Han-Wook Yoo, Beom Hee Lee
Published 2016-02-01