Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea-Reference-Cited by-同舟云学术

Two Siblings with Adolescent/Adult Onset Niemann-Pick Disease Type C in Korea

Published:2016 Issue:7 Volume:31 Page:1168
ISSN:1011-8934
Container-title:Journal of Korean Medical Science
language:en
Short-container-title:J Korean Med Sci

Author:

Lee Su-Yun¹^ORCID,Lee Hyung Jin¹^ORCID,Kim Seong Hwan²^ORCID,Jeong Young Jin³^ORCID,Jin Hee Kyung⁴^ORCID,Bae Jae-sung⁵^ORCID,Cheon Sang-Myung¹^ORCID,Kim Jae Woo¹^ORCID

Affiliation:

1. Department of Neurology, Dong-A University College of Medicine, Busan, Korea.

2. Department of Psychiatry, Dong-A University College of Medicine, Busan, Korea.

3. Department of Nuclear Medicine, Dong-A University College of Medicine, Busan, Korea.

4. Department of Laboratory Animal Medicine, College of Veterinary Medicine, Kyungpook National University, Daegu, Korea.

5. Department of Physiology, School of Medicine, Kyungpook National University, Daegu, Korea.

Publisher

Korean Academy of Medical Sciences

Subject

General Medicine

Link

http://synapse.koreamed.org/pdf/10.3346/jkms.2016.31.7.1168

Cited by 11 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. Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant;Journal of Rare Diseases;2024-07-08

2. Swallowing characterization of adult-onset Niemann-Pick, type C1 patients;Orphanet Journal of Rare Diseases;2024-06-11

3. Novel compound heterozygous mutations of the NPC1 gene associated with Niemann-pick disease type C: a case report and review of the literature;BMC Infectious Diseases;2024-01-30

4. Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine;npj Genomic Medicine;2023-08-11

5. Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR);Orphanet Journal of Rare Diseases;2022-02-14