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MeSH:(Lysosomal Storage Diseases/*diagnosis)

1.Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease.

Sangmoon LEE ; Hyon J KIM ; Seon Yong JEONG ; Jeong Min HWANG

Journal of the Korean Ophthalmological Society 2013;54(1):131-135

2.Treatment and management of patients with inherited metabolic diseases.

Jin Sung LEE

Korean Journal of Pediatrics 2006;49(11):1152-1157

3.A Case of Cystinosis.

Min Ho JUNG ; Seung On KEUN ; Soon Ju LEE ; Byung Churl LEE

Journal of the Korean Pediatric Society 2003;46(6):615-619

4.Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.

Ja Hye KIM ; Yang Hyun CHI ; Gu Hwan KIM ; Han Wook YOO ; Jun Hwa LEE

Korean Journal of Pediatrics 2016;59(Suppl 1):S37-S40

5.Endocrine complications during and after adolescence in a patient with cystinosis.

Moon Bae AHN ; Sung Eun KIM ; Won Kyoung CHO ; Min Ho JUNG ; Byung Kyu SUH

Annals of Pediatric Endocrinology & Metabolism 2016;21(3):174-178

6.Use of Tandem Mass Spectrometry for Newborn Screening of 6 Lysosomal Storage Disorders in a Korean Population.

Minje HAN ; Sun Hee JUN ; Sang Hoon SONG ; Kyoung Un PARK ; Jin Q KIM ; Junghan SONG

The Korean Journal of Laboratory Medicine 2011;31(4):250-256

7.Detection of vacuolated peripheral blood lymphocytes in screening for and diagnosis of lysosomal storage diseases.

Xing-zhi CHANG ; Jie-yu LIU ; Ye WU ; Yu-wu JIANG ; Hui XIONG ; Shuang WANG ; Jiong QIN

Chinese Journal of Pediatrics 2011;49(2):135-138

8.Substrate reduction therapy in three patients with Gaucher disease.

Soo Hyun KIM ; Eungu KANG ; Yoon Myung KIM ; Gu Hwan KIM ; In Hee CHOI ; Jin Ho CHOI ; Han Wook YOO ; Beom Hee LEE

Journal of Genetic Medicine 2016;13(2):72-77

9.A family with two children diagnosed with aspartylglucosaminuria-case report and literature review.

Yujie LIU ; Liping ZOU ; Yan MENG ; Ying ZHANG ; Xiuyu SHI ; Jun JU ; Guang YANG ; Linyan HU ; Xiaoqiao CHEN

Chinese Journal of Pediatrics 2014;52(6):455-459

10.Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea

Duck Sung KO ; Sun Hee LEE ; Chan Woo PARK ; Chun Kyu LIM

Clinical and Experimental Reproductive Medicine 2019;46(4):206-210

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