| 2025 | | Efficacy and safety of idursulfase beta in the treatment of mucopolysaccharidosis II: A phase-3, 2-part study compared with a historical placebo cohort
Genetics in medicine : official journal of the American College of Medical Genetics, 27(8). : 101460-101460, 2025 | 손영배 |
| 2025 | | Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
Human mutation, 2025. : 6096758-6096758, 2025 | 손영배 |
| 2025 | | Long-term outcomes of enzyme replacement therapy from a large cohort of Korean patients with mucopolysaccharidosis IVA (Morquio A syndrome)
Molecular genetics and metabolism reports, 42. : 101189-101189, 2025 | 손영배 |
| 2024 | | Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT)
Molecular genetics and metabolism reports, 38. : 101041-101041, 2024 | 손영배 |
| 2023 | | Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from com-pound heterozygous mutations in the ABCC8 gene
Annals of pediatric endocrinology & metabolism, 28(S1). : S23-S24, 2023 | 손영배, 이해상, 황진순 |
| 2023 | | Aperiodic alternating nystagmus in adult-onset Alexander disease with a novel mutation
Journal of neurology, 270(1). : 569-572, 2023 | 손영배, 이성준, 이진수, 홍지만 |
| 2022 | | RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A
Molecular genetics and metabolism reports, 31. : 100875-100875, 2022 | 손영배 |
| 2022 | | Timing is everything: Clinical courses of Hunter syndrome associated with age at initiation of therapy in a sibling pair
Molecular genetics and metabolism reports, 30. : 100845-100845, 2022 | 손영배 |
| 2022 | | Genetic obesity: an update with emerging therapeutic approaches
Annals of pediatric endocrinology & metabolism, 27(3). : 169-175, 2022 | 손영배 |
| 2022 | | Updates on Paget’s Disease of Bone
Endocrinology and metabolism (Seoul, Korea), 37(5). : 732-743, 2022 | 손영배, 정윤석, 최용준 |
| 2022 | | The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
Orphanet journal of rare diseases, 17(1). : 372-372, 2022 | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome
Blood, 138(21). : 2117-2128, 2021 | 손영배 |
| 2021 | | Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience
Frontiers in genetics, 12. : 670608-670608, 2021 | 김정택, 손영배, 조재호 |
| 2020 | | The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects
Orphanet journal of rare diseases, 15(1). : 318-318, 2020 | 손영배 |
| 2020 | | Ataxia Associated with CADASIL: a Pathology-Confirmed Case Report and Literature Review
Cerebellum (London, England), 19(6). : 907-910, 2020 | 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
Orphanet journal of rare diseases, 14(1). : 216-216, 2019 | 손영배 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis
European journal of medical genetics, 62(8). : 103681-103681, 2019 | 손영배, 장주영 |
| 2019 | | Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
International journal of hematology, 109(3). : 369-370, 2019 | 손영배 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia
International journal of hematology, 109(3). : 361-365, 2019 | 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
Journal of inherited metabolic disease, 41(6). : 1235-1246, 2018 | 손영배 |
| 2018 | | Successful switching from insulin to sulfonylurea in a 3-month-old infant with diabetes due to p.G53D mutation in KCNJ11
Annals of pediatric endocrinology & metabolism, 23(3). : 154-157, 2018 | 박규정, 손영배, 이해상, 황진순 |
| 2017 | | Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing
Journal of The Korean Society of Inherited Metabolic disease, 17(3). : 96-102, 2017 | 손영배, 이다근, 장주영 |
| 2017 | | Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings
JAAD case reports, 3(3). : 172-174, 2017 | 손영배, 이은소 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype
Medicine, 96(29). : e7387-e7387, 2017 | 손영배 |
| 2017 | | A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes
Medicine, 96(12). : e6367-e6367, 2017 | 손영배, 송형근, 정윤석, 최용준 |
| 2017 | | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis
Orphanet journal of rare diseases, 12(1). : 11-11, 2017 | 손영배 |
| 2016 | | Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures.
Journal of genetic medicine, 13(2). : 59-64, 2016 | 손영배 |
| 2016 | | Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies
Molecular medicine (Cambridge, Mass.), 22. : 147-155, 2016 | 손영배 |
| 2016 | | Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
Journal of Korean medical science, 31(8). : 1307-1318, 2016 | 손영배 |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients
Journal of human genetics, 61(3). : 235-239, 2016 | 손영배 |
| 2016 | | AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
Molecular genetics and metabolism, 117(4). : 447-455, 2016 | 손영배 |
| 2015 | | Isolated patchy heterochromia of the scalp hair.
European journal of dermatology : EJD, 25(4). : 342-343, 2015 | 김유찬, 손성향, 손영배 |
| 2015 | | Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.
Orphanet journal of rare diseases, 10. : 141-141, 2015 | 손영배 |
| 2015 | | Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Molecular pharmaceutics, 12(10). : 3759-3765, 2015 | 손영배 |
| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Molecular genetics and metabolism, 114(2). : 156-160, 2015 | 손영배 |
| 2015 | | Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
Journal of Korean medical science, 30(7). : 911-916, 2015 | 손영배 |
| 2015 | | A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
Journal of Korean medical science, 30(4). : 378-384, 2015 | 손영배 |
| 2015 | | The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
Journal of Korean medical science, 30(2). : 214-217, 2015 | 손영배, 임신영 |
| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Human mutation, 36(2). : 191-195, 2015 | 손영배 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
European journal of medical genetics, 58(3). : 175-179, 2015 | 손영배 |
| 2015 | | Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
American journal of medical genetics. Part A, 167A(1). : 86-94, 2015 | 손영배 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
Cellular signalling, 26(11). : 2446-2459, 2014 | 손영배 |
| 2014 | | TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions.
Oncology reports, 32(4). : 1347-1354, 2014 | 손영배, 임현이, 정선용, 한재호 |
| 2014 | | Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis.
Molecular genetics and metabolism, 112(3). : 218-223, 2014 | 손영배 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
Journal of human genetics, 59(6). : 321-325, 2014 | 손영배, 정선용 |
| 2014 | | A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Glycoconjugate journal, 31(4). : 309-315, 2014 | 손영배 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
Annals of clinical and laboratory science, 44(2). : 228-231, 2014 | 손영배 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
Journal of Korean medical science, 29(2). : 254-260, 2014 | 손영배 |
| 2014 | | A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
Journal of genetic medicine, 11(1). : 40-42, 2014 | 박상욱, 손영배, 정선용 |
| 2014 | | A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation
Journal of The Korean Society of Inherited Metabolic disease, 14(2). : 186-190, 2014 | 손영배, 장주영 |
