| 2024 | | Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT) | 손영배 |
| 2023 | | Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene | 손영배, 이해상, 황진순 |
| 2023 | | Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation | 손영배, 이성준, 이진수, 홍지만 |
| 2022 | | RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A | 손영배 |
| 2022 | | Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair | 손영배 |
| 2022 | | Genetic obesity: an update with emerging therapeutic approaches | 손영배 |
| 2022 | | Updates on Paget’s Disease of Bone | 손영배, 정윤석, 최용준 |
| 2022 | | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2021 | | Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience | 김정택, 손영배, 조재호 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects | 손영배 |
| 2020 | | Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review | 박동규, 손성향, 손영배, 윤정한 |
| 2019 | | Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial | 손영배 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2019 | | Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2018 | | 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 | 손영배 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11 | 박규정, 손영배, 이해상, 황진순 |
| 2017 | | Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing | 손영배, 이다근, 장주영 |
| 2017 | | Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings | 손영배, 이은소 |
