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1.
The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy.
Epilepsia
; 63(12): 3148-3155, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36073252
2.
Clinical characteristics, treatment outcomes, and occurrence of diabetes mellitus after pancreatic resection of solid pseudopapillary tumor in children and adolescents: A single institution experience with 51 cases.
Pancreatology
; 21(3): 509-514, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33509684
3.
Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.
BMC Endocr Disord
; 21(1): 243, 2021 Dec 10.
Article
in English
| MEDLINE | ID: mdl-34893062
4.
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Ann Hum Genet
; 83(3): 160-170, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30730578
5.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet
; 98(6): 1243-1248, 2016 06 02.
Article
in English
| MEDLINE | ID: mdl-27236923
6.
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.
J Inherit Metab Dis
; 41(6): 1235-1246, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29978271
7.
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
BMC Med Genet
; 18(1): 121, 2017 10 26.
Article
in English
| MEDLINE | ID: mdl-29073906
8.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Mol Genet Metab
; 117(4): 447-55, 2016 Apr.
Article
in English
| MEDLINE | ID: mdl-26857995
9.
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
BMC Med Genet
; 17(1): 58, 2016 08 12.
Article
in English
| MEDLINE | ID: mdl-27520059
10.
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.
Am J Med Genet A
; 170A(2): 426-434, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26567084
11.
Estrogen-mediated Height Control in Girls with Marfan Syndrome.
J Korean Med Sci
; 31(2): 275-9, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26839483
12.
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Hum Mutat
; 36(2): 191-5, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25402547
13.
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Mol Genet Metab
; 114(2): 156-60, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25219292
14.
Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI).
Mol Genet Metab
; 115(1): 41-7, 2015 May.
Article
in English
| MEDLINE | ID: mdl-25892708
15.
Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
Am J Med Genet A
; 167A(1): 86-94, 2015 Jan.
Article
in English
| MEDLINE | ID: mdl-25339260
16.
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Mol Pharm
; 12(10): 3759-65, 2015 Oct 05.
Article
in English
| MEDLINE | ID: mdl-26370910
17.
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
J Korean Med Sci
; 30(7): 911-6, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-26130954
18.
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.
Mol Genet Metab
; 112(3): 218-23, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24836711
19.
Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.
BMC Med Genet
; 15: 94, 2014 Aug 15.
Article
in English
| MEDLINE | ID: mdl-25124065
20.
A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome.
Glycoconj J
; 31(4): 309-15, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24781369