Dong-Kyu Jin

Dong-Kyu Jin

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Dong-Kyu Jin

Dong-Kyu Jin

Publications by authors named "Dong-Kyu Jin"

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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 J Rare Dis 2019 Sep 11;14(1):216. Epub 2019 Sep 11.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-019-1195-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6739953PMC
September 2019

Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.

Ann Hum Genet 2019 May 7;83(3):160-170. Epub 2019 Feb 7.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1111/ahg.12298DOI Listing
May 2019

A case of de novo 18p deletion syndrome with panhypopituitarism.

Ann Pediatr Endocrinol Metab 2019 Mar 31;24(1):60-63. Epub 2019 Mar 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2019.24.1.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449612PMC
March 2019

A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.

Ann Pediatr Endocrinol Metab 2018 Dec 31;23(4):229-234. Epub 2018 Dec 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2018.23.4.229DOI Listing
December 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.

J Inherit Metab Dis 2018 11 5;41(6):1235-1246. Epub 2018 Jul 5.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81, Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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http://dx.doi.org/10.1007/s10545-018-0221-0DOI Listing
November 2018

Oculodentodigital Dysplasia with a Novel Mutation in Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.

Ann Clin Lab Sci 2018 11;48(6):776-781

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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November 2018

Rare Association of Mucolipidosis III alpha/beta with Dilated Cardiomyopathy.

Ann Clin Lab Sci 2018 Nov;48(6):785-789

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

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November 2018

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review.

Medicine (Baltimore) 2018 Sep;97(36):e12124

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1097/MD.0000000000012124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6133583PMC
September 2018

First Korean Case of Renpenning Syndrome with Novel Mutation in Diagnosed by Targeted Exome Sequencing, and Literature Review.

Ann Clin Lab Sci 2018 Jul;48(4):522-527

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul.

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July 2018

Etiological trends in male central precocious puberty.

Ann Pediatr Endocrinol Metab 2018 Jun 20;23(2):75-80. Epub 2018 Jun 20.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2018.23.2.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057022PMC
June 2018

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

Ann Pediatr Endocrinol Metab 2018 Jun 20;23(2):107-111. Epub 2018 Jun 20.

Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.

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http://dx.doi.org/10.6065/apem.2018.23.2.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057017PMC
June 2018

Pycnodysostosis: Novel Variants in and Occurrence of Giant Cell Tumor.

J Pediatr Genet 2018 Mar 13;7(1):9-13. Epub 2017 Jul 13.

Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.

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http://dx.doi.org/10.1055/s-0037-1604100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809170PMC
March 2018

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

BMC Med Genet 2017 10 26;18(1):121. Epub 2017 Oct 26.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.

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http://dx.doi.org/10.1186/s12881-017-0484-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5659003PMC
October 2017

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.

Ann Pediatr Endocrinol Metab 2017 Sep 28;22(3):203-207. Epub 2017 Sep 28.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2017.22.3.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5642084PMC
September 2017

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Clin Chim Acta 2017 Aug 13;471:191-195. Epub 2017 Jun 13.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.06.010DOI Listing
August 2017

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

Orphanet J Rare Dis 2017 08 30;12(1):146. Epub 2017 Aug 30.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

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http://dx.doi.org/10.1186/s13023-017-0702-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577752PMC
August 2017

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Ann Pediatr Endocrinol Metab 2017 Jun 28;22(2):129-132. Epub 2017 Jun 28.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2017.22.2.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495980PMC
June 2017

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Orphanet J Rare Dis 2017 01 17;12(1):11. Epub 2017 Jan 17.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-016-0556-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5240260PMC
January 2017

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.

Orphanet J Rare Dis 2016 08 9;11(1):113. Epub 2016 Aug 9.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-016-0496-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977675PMC
August 2016

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 2016 08 12;17(1):58. Epub 2016 Aug 12.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710, Korea.

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http://dx.doi.org/10.1186/s12881-016-0319-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983032PMC
August 2016

Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.

Ann Clin Lab Sci 2015 ;45(4):458-61

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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May 2016

Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report.

Medicine (Baltimore) 2016 May;95(18):e3155

From the Department of Neurosurgery (JHJ, S-BI), Department of Radiology (ALL), Soonchunhyang University Bucheon Hospital, Bucheon, Korea; and Department of Pediatrics (SYC, DKJ), Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1097/MD.0000000000003155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863758PMC
May 2016

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Ann Clin Lab Sci 2016 May;46(3):302-7

Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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May 2016

AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.

Mol Genet Metab 2016 Apr 3;117(4):447-55. Epub 2016 Feb 3.

Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Republic of Korea.

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http://dx.doi.org/10.1016/j.ymgme.2016.02.001DOI Listing
April 2016

Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS.

Ann Clin Lab Sci 2015 ;45(3):344-7

Department of Pediatrics, Graduate School of Medicine, Inha University of Medicine, Incheon, Republic of Korea

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March 2016

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

Am J Med Genet A 2016 Feb 14;170A(2):426-434. Epub 2015 Nov 14.

Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.37463DOI Listing
February 2016

Estrogen-mediated Height Control in Girls with Marfan Syndrome.

J Korean Med Sci 2016 Feb 26;31(2):275-9. Epub 2016 Jan 26.

Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2016.31.2.275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729509PMC
February 2016

Hypoparathyroidism in a 3-year-old Korean boy with Sotos syndrome and a novel mutation in NSD1.

Ann Clin Lab Sci 2015 ;45(2):215-8

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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January 2016

Osteogenesis imperfecta Type I caused by a novel mutation in the start codon of the COL1A1 gene in a Korean family.

Ann Clin Lab Sci 2015 ;45(1):100-5

Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine

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December 2015

Guidelines for genetic skeletal dysplasias for pediatricians.

Ann Pediatr Endocrinol Metab 2015 Dec 31;20(4):187-91. Epub 2015 Dec 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2015.20.4.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4722157PMC
December 2015

Acute myocardial infarction caused by a floating thrombus in the proximal ascending aorta.

Korean J Intern Med 2015 Nov 30;30(6):921-4. Epub 2015 Oct 30.

Division of Cardiology, Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Korea.

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http://dx.doi.org/10.3904/kjim.2015.30.6.921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642023PMC
November 2015

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Mol Pharm 2015 Oct 21;12(10):3759-65. Epub 2015 Sep 21.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul, Republic of Korea.

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http://dx.doi.org/10.1021/acs.molpharmaceut.5b00550DOI Listing
October 2015

Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II.

Orphanet J Rare Dis 2015 Oct 31;10:141. Epub 2015 Oct 31.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-015-0356-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628320PMC
October 2015

Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome.

Orphanet J Rare Dis 2015 Sep 25;10:121. Epub 2015 Sep 25.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710, Republic of Korea.

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http://dx.doi.org/10.1186/s13023-015-0337-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582722PMC
September 2015

Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.

J Korean Med Sci 2015 Jul 10;30(7):911-6. Epub 2015 Jun 10.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2015.30.7.911DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479945PMC
July 2015

Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases.

Ann Pediatr Endocrinol Metab 2015 Jun 30;20(2):106-9. Epub 2015 Jun 30.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2015.20.2.106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504990PMC
June 2015

Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.

Eur J Med Genet 2015 Mar 24;58(3):175-9. Epub 2014 Dec 24.

Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.12.011DOI Listing
March 2015

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.

Ann Pediatr Endocrinol Metab 2015 Mar 31;20(1):40-5. Epub 2015 Mar 31.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2015.20.1.40DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397272PMC
March 2015

Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.

Mol Genet Metab 2015 Feb 30;114(2):156-60. Epub 2014 Aug 30.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2014.08.009DOI Listing
February 2015

Disease-specific growth charts for Korean infants with Prader-Willi syndrome.

Am J Med Genet A 2015 Jan 22;167A(1):86-94. Epub 2014 Oct 22.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.36816DOI Listing
January 2015

A Korean patient with glutaric aciduria type 1 with a novel mutation in the glutaryl CoA dehydrogenase gene.

Ann Clin Lab Sci 2014 ;44(2):213-6

PhD; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, Korea, 135-710; phone: +82 2 3410 3539; fax: +82 2 3410 0043; e-mail:

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December 2014

Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2.

Am J Med Genet A 2014 Oct 10;164A(10):2529-34. Epub 2014 Jul 10.

Department of Pediatrics, School of Medicine, Keio University, Tokyo, Japan.

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http://dx.doi.org/10.1002/ajmg.a.36669DOI Listing
October 2014

Novel GALT variations and mutation spectrum in the Korean population with decreased galactose-1-phosphate uridyltransferase activity.

BMC Med Genet 2014 Aug 15;15:94. Epub 2014 Aug 15.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Republic of Korea.

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http://dx.doi.org/10.1186/s12881-014-0094-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236512PMC
August 2014

An overview of Korean patients with mucopolysaccharidosis and collaboration through the Asia Pacific MPS Network.

Intractable Rare Dis Res 2014 Aug;3(3):79-86

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea;

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http://dx.doi.org/10.5582/irdr.2014.01013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214241PMC
August 2014

Multicenter clinical trial of leuprolide acetate depot (Luphere depot 3.75 mg) for efficacy and safety in girls with central precocious puberty.

Ann Pediatr Endocrinol Metab 2013 Dec 31;18(4):173-8. Epub 2013 Dec 31.

Department of Pediatrics, Ajou University Hospital, Ajou University School of Medicine, Suwon, Korea.

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http://dx.doi.org/10.6065/apem.2013.18.4.173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027087PMC
December 2013

High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II.

J Hum Genet 2013 Nov 5;58(11):728-33. Epub 2013 Sep 5.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/jhg.2013.92DOI Listing
November 2013

Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

Ann Pediatr Endocrinol Metab 2013 Sep 30;18(3):128-34. Epub 2013 Sep 30.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://e-apem.org/journal/view.php?doi=10.6065/apem.2013.18.
Publisher Site
http://dx.doi.org/10.6065/apem.2013.18.3.128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027076PMC
September 2013

Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.

Am J Med Genet A 2013 Aug 26;161A(8):1972-9. Epub 2013 Jun 26.

Department of Radiology, Ajou University Medical School, Suwon, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.36024DOI Listing
August 2013

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome.

Korean J Pediatr 2013 Aug 27;56(8):355-8. Epub 2013 Aug 27.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2013.56.8.355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3764261PMC
August 2013

Takotsubo cardiomyopathy associated with severe hypocalcemia secondary to idiopathic hypoparathyroidism.

Korean Circ J 2013 Aug 31;43(8):573-7. Epub 2013 Aug 31.

Department of Internal Medicine, School of Medicine, Soonchunhyang University, Cheonan Hospital, Cheonan, Korea.

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http://dx.doi.org/10.4070/kcj.2013.43.8.573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3772305PMC
August 2013

Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.

J Korean Med Sci 2013 Jul 3;28(7):1107-10. Epub 2013 Jul 3.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2013.28.7.1107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3708087PMC
July 2013

A report of an Indian boy with a delayed diagnosis of pseudochondroplasia.

J Clin Diagn Res 2013 Jul 1;7(7):1479-81. Epub 2013 Jul 1.

Senior Research Associate, MAMC Associated Lok Nayak Hospital , New Delhi, India .

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http://dx.doi.org/10.7860/JCDR/2013/5410.3167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749671PMC
July 2013

Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice.

Am J Med Genet A 2013 May 25;161A(5):1036-43. Epub 2013 Mar 25.

Department of Medical Genetics, Ajou University Hospital, Suwon, South Korea.

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http://dx.doi.org/10.1002/ajmg.a.35869DOI Listing
May 2013

A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB.

Ann Lab Med 2013 May 17;33(3):221-4. Epub 2013 Apr 17.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.3.221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646201PMC
May 2013

Factors associated with health-related quality of life in elderly Korean patients with heart failure.

J Cardiovasc Nurs 2012 Nov-Dec;27(6):528-38

Department of Nursing, Soonchunhyang University, Cheonan, Republic of Korea.

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http://dx.doi.org/10.1097/JCN.0b013e31823fa38aDOI Listing
April 2013

Intravitreal human complement factor H in a rat model of laser-induced choroidal neovascularisation.

Br J Ophthalmol 2013 Mar 19;97(3):367-70. Epub 2012 Dec 19.

Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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http://bjo.bmj.com/content/early/2012/12/18/bjophthalmol-201
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http://bjo.bmj.com/cgi/doi/10.1136/bjophthalmol-2012-302307
Publisher Site
http://dx.doi.org/10.1136/bjophthalmol-2012-302307DOI Listing
March 2013

The proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.

J Hum Genet 2013 Mar 10;58(3):150-4. Epub 2013 Jan 10.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1038/jhg.2012.148DOI Listing
March 2013

Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.

Am J Med Genet A 2013 Mar 8;161A(3):509-17. Epub 2013 Feb 8.

Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.35298DOI Listing
March 2013

Mutation spectrum of the ASS1 gene in Korean patients with citrullinemia type I.

Clin Biochem 2013 Feb 22;46(3):209-13. Epub 2012 Oct 22.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1016/j.clinbiochem.2012.10.008DOI Listing
February 2013

The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation.

Ann Lab Med 2013 Jan 17;33(1):75-9. Epub 2012 Dec 17.

Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2013.33.1.75DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3535201PMC
January 2013

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty.

Korean J Pediatr 2012 Dec 20;55(12):481-6. Epub 2012 Dec 20.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2012.55.12.481DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3534162PMC
December 2012

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA.

Korean J Pediatr 2012 Nov 23;55(11):430-7. Epub 2012 Nov 23.

Department of Pediatrics, Samsung Medical Center, Sunkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2012.55.11.430DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3510273PMC
November 2012

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls.

Korean J Pediatr 2012 Oct 29;55(10):388-92. Epub 2012 Oct 29.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2012.55.10.388DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488615PMC
October 2012

Auditory characteristics and therapeutic effects of enzyme replacement in mouse model of the mucopolysaccharidosis (MPS) II.

Am J Med Genet A 2012 Sep 27;158A(9):2131-8. Epub 2012 Jul 27.

Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, and Hana ENT Hospital, Seoul, South Korea.

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http://dx.doi.org/10.1002/ajmg.a.35498DOI Listing
September 2012

Continuous renal replacement therapy in neonates weighing less than 3 kg.

Korean J Pediatr 2012 Aug 23;55(8):286-92. Epub 2012 Aug 23.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2012.55.8.286DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3433565PMC
August 2012

Endocrine problems in children with Prader-Willi syndrome: special review on associated genetic aspects and early growth hormone treatment.

Authors:
Dong-Kyu Jin

Korean J Pediatr 2012 Jul 17;55(7):224-31. Epub 2012 Jul 17.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2012.55.7.
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http://dx.doi.org/10.3345/kjp.2012.55.7.224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3405154PMC
July 2012

A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene.

Ann Clin Lab Sci 2012 ;42(1):89-93

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Irwon-dong, Gangnam-gu, Seoul, South Korea.

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June 2012

Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature.

Am J Med Genet A 2012 Jun 11;158A(6):1462-6. Epub 2012 May 11.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1002/ajmg.a.35357DOI Listing
June 2012

A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.

Am J Med Genet A 2011 Dec 3;155A(12):2970-3. Epub 2011 Nov 3.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1002/ajmg.a.34309DOI Listing
December 2011

Transcatheter arterial embolization as treatment for a life-threatening retroperitoneal hemorrhage complicating heparin therapy.

Korean J Intern Med 2011 Sep 13;26(3):352-5. Epub 2011 Sep 13.

Department of Internal Medicine, Soonchunghyang University Cheonan Hospital, Cheonan, Korea.

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http://dx.doi.org/10.3904/kjim.2011.26.3.352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192209PMC
September 2011