Publications by authors named "Han-Wook Yoo"

100Publications

Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption.

Ann Pediatr Endocrinol Metab 2020 Jun 30;25(2):112-117. Epub 2020 Jun 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.1938142.071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336258PMC
June 2020

Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.

Ann Pediatr Endocrinol Metab 2020 Jun 30;25(2):97-103. Epub 2020 Jun 30.

Depar tment of Pediatrics, Asan Medical Center, Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.1938152.076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336261PMC
June 2020

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.

Exp Clin Endocrinol Diabetes 2020 Jun 2. Epub 2020 Jun 2.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1055/a-1151-4800DOI Listing
June 2020

A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.

J Hum Genet 2020 Jun 6;65(6):551-555. Epub 2020 Mar 6.

Department of Pediatrics & Medical Genetics, Asan Medical, Center University of Ulsan College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1038/s10038-020-0735-9DOI Listing
June 2020

Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Orphanet J Rare Dis 2020 02 11;15(1):45. Epub 2020 Feb 11.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan, College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1186/s13023-020-1321-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7014716PMC
February 2020

Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.

Ann Pediatr Endocrinol Metab 2019 Dec 31;24(4):231-236. Epub 2019 Dec 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2019.24.4.231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944855PMC
December 2019

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.

J Hum Genet 2020 Jan 28;65(2):79-89. Epub 2019 Nov 28.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.

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http://dx.doi.org/10.1038/s10038-019-0695-0DOI Listing
January 2020

Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report.

Ann Rehabil Med 2019 Oct 31;43(5):621-624. Epub 2019 Oct 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5535/arm.2019.43.5.621DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835131PMC
October 2019

Novel Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.

Pediatr Gastroenterol Hepatol Nutr 2019 Sep 11;22(5):479-486. Epub 2019 Sep 11.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5223/pghn.2019.22.5.479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751104PMC
September 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 J Rare Dis 2019 09 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 extremely rare mitochondrial disorders by whole exome sequencing.

J Hum Genet 2019 Nov 26;64(11):1117-1125. Epub 2019 Aug 26.

Department of Pediatrics, ASAN Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/s10038-019-0660-yDOI Listing
November 2019

Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.

J Hum Genet 2019 Nov 19;64(11):1137-1140. Epub 2019 Aug 19.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1038/s10038-019-0657-6DOI Listing
November 2019

Phenotypic and molecular spectrum of Korean patients with Lesch-Nyhan syndrome and attenuated clinical variants.

Metab Brain Dis 2019 10 25;34(5):1335-1340. Epub 2019 May 25.

Department of Pediatrics, Kyung Hee University Hospital at Gangdong, Seoul, South Korea.

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http://dx.doi.org/10.1007/s11011-019-00441-0DOI Listing
October 2019

Progressive Familial Intrahepatic Cholestasis in Korea: A Clinicopathological Study of Five Patients.

J Pathol Transl Med 2019 Jul 16;53(4):253-260. Epub 2019 May 16.

1Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://www.jpatholtm.org/journal/view.php?doi=10.4132/jptm.2
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http://dx.doi.org/10.4132/jptm.2019.05.03DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6639708PMC
July 2019

Growth hormone therapy in patients with Noonan syndrome.

Ann Pediatr Endocrinol Metab 2018 Dec 31;23(4):176-181. Epub 2018 Dec 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2018.23.4.176DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6312920PMC
December 2018

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

J Korean Med Sci 2018 Dec 22;33(51):e324. Epub 2018 Nov 22.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2018.33.e324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6291407PMC
December 2018

Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome.

Korean J Pediatr 2019 Jul 3;62(7):274-280. Epub 2018 Dec 3.

Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.

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http://dx.doi.org/10.3345/kjp.2018.06842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642922PMC
July 2019

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

Horm Res Paediatr 2018 29;90(5):283-290. Epub 2018 Nov 29.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea,

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http://dx.doi.org/10.1159/000493468DOI Listing
July 2019

Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism.

Exp Clin Endocrinol Diabetes 2019 Sep 14;127(8):538-544. Epub 2018 Sep 14.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1055/a-0681-6608DOI Listing
September 2019

Low prevalence of argininosuccinate lyase deficiency among inherited urea cycle disorders in Korea.

J Hum Genet 2018 Jul 17;63(8):911-917. Epub 2018 May 17.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/s10038-018-0467-2DOI Listing
July 2018

Treatable massive pericardial effusion and hypertrophic cardiomyopathy in an infant with a novel homozygous ACADVL mutation: A case report.

Medicine (Baltimore) 2018 May;97(20):e10813

Department of Pediatrics, College of Medicine, Pusan National University Children's Hospital, Yangsan.

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http://dx.doi.org/10.1097/MD.0000000000010813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976315PMC
May 2018

The phenotypic heterogeneity of patients with Marfan-related disorders and their variant spectrums.

Medicine (Baltimore) 2018 May;97(20):e10767

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul.

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http://dx.doi.org/10.1097/MD.0000000000010767DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5976283PMC
May 2018

Biochemical and molecular characterisation of neurological Wilson disease.

J Med Genet 2018 09 4;55(9):587-593. Epub 2018 Apr 4.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1136/jmedgenet-2017-105214DOI Listing
September 2018

Hepatopulmonary syndrome caused by hypothalamic obesity and nonalcoholic fatty liver disease after surgery for craniopharyngioma: a case report.

Ann Pediatr Endocrinol Metab 2018 Mar 22;23(1):51-55. Epub 2018 Mar 22.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2018.23.1.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894559PMC
March 2018

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.

BMC Pediatr 2018 03 8;18(1):103. Epub 2018 Mar 8.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Korea.

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http://dx.doi.org/10.1186/s12887-018-1069-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5842515PMC
March 2018

A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.

BMC Med Genet 2018 03 5;19(1):35. Epub 2018 Mar 5.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-Gu, Seoul, 05505, South Korea.

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http://dx.doi.org/10.1186/s12881-018-0546-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5836387PMC
March 2018

Long-term endocrine effects and trends in body mass index changes in patients with childhood-onset brain tumors.

J Neurooncol 2018 May 19;138(1):55-62. Epub 2018 Jan 19.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.

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http://dx.doi.org/10.1007/s11060-018-2765-0DOI Listing
May 2018

Broad clinical spectrum and diverse outcomes of prolactinoma with pediatric onset: medication-resistant and recurrent cases.

Endocr J 2018 Mar 27;65(3):307-315. Epub 2017 Dec 27.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1507/endocrj.EJ17-0268DOI Listing
March 2018

Impaired Osteogenesis of Disease-Specific Induced Pluripotent Stem Cells Derived from a CFC Syndrome Patient.

Int J Mol Sci 2017 Dec 1;18(12). Epub 2017 Dec 1.

Graduate School of Medical Science and Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Korea.

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http://www.mdpi.com/1422-0067/18/12/2591
Publisher Site
http://dx.doi.org/10.3390/ijms18122591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751194PMC
December 2017

A multicenter, open-label, phase III study of Abcertin in Gaucher disease.

Medicine (Baltimore) 2017 Nov;96(45):e8492

aDepartment of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea bPaediatric GIT Unit, Mansoura University Children's Hospital cAbou El Reesh Children's Hospital, Cairo University, Egypt dMedical Genetics Center, Asan Medical Center eAsan Institute for Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea fBiochemical Genetics Department, National Research Centre, Cairo, Egypt gISU ABXIS Co., Ltd, Seongnam, Korea.

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http://dx.doi.org/10.1097/MD.0000000000008492DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5690733PMC
November 2017

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

J Med Genet 2017 11 23;54(11):771-780. Epub 2017 Aug 23.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1136/jmedgenet-2017-104704DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5740533PMC
November 2017

Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype.

Medicine (Baltimore) 2017 Jul;96(29):e7387

aDepartment of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine bAsan Institute for Life Sciences cMedical Genetics Center, Asan Medical Center Children's Hospital, Seoul dDepartment of Pediatrics, Pusan National University Children's Hospital eDepartment of Neurology, Pusan National University Yangsan Hospital, Pusan National University School of Medicine, Yangsan fDepartment of Pediatrics, Seoul National University Children's Hospital, Seoul gDepartment of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine, Suwon hDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon iDepartment of Pediatrics, College of Medicine, Soonchunhyang University, Seoul Hospital, Seoul jDepartment of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun kDepartment of Pediatrics, Chungnam National University Hospital, Daejeon lDepartment of Cardiology, Bucheon Sejong Hospital, Bucheon mDepartment of Cardiology, Kyung Hee University Hospital nDepartment of Cardiology, Yonsei University Severance Hospital oDepartment of Nephrology, Chung-Ang University Hospital pDepartment of Cardiology, Eulji University Hospital, Seoul qDepartment of Nephrology, Kyungpook National University Hospital, Daegu rDivision of Nephrology, Department of Internal Medicine, Dankook University Hospital, Dankook University, College of Medicine, Cheonan sDepartment of Cardiology, Inje University Busan Paik Hospital, Busan, Republic of Korea.

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http://dx.doi.org/10.1097/MD.0000000000007387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5521888PMC
July 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

Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.

BMC Med Genet 2017 05 15;18(1):55. Epub 2017 May 15.

Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1186/s12881-017-0403-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5433137PMC
May 2017

DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.

J Korean Med Sci 2017 Jun;32(6):1042-1045

Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, Seoul, Korea.

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http://dx.doi.org/10.3346/jkms.2017.32.6.1042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5426229PMC
June 2017

Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Mol Med 2017 07 2;23:149-154. Epub 2017 May 2.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.2119/molmed.2017.00023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5522967PMC
July 2017

Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia.

Ann Pediatr Endocrinol Metab 2017 Mar 31;22(1):60-64. Epub 2017 Mar 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://e-apem.org/journal/view.php?doi=10.6065/apem.2017.22.
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http://dx.doi.org/10.6065/apem.2017.22.1.60DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5401825PMC
March 2017

High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.

Clin Genet 2017 Dec 30;92(6):594-605. Epub 2017 Aug 30.

Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1111/cge.13038DOI Listing
December 2017

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care.

Korean J Pediatr 2017 Feb 27;60(2):31-37. Epub 2017 Feb 27.

Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2017.60.2.31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5346506PMC
February 2017

Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease.

Medicine (Baltimore) 2017 Feb;96(6):e6063

aDepartment of Pediatrics, Asan Medical Center Children's Hospital bDivision of Cardiology, Cardiac Imaging Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1097/MD.0000000000006063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5313015PMC
February 2017

Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development.

Mol Cell Endocrinol 2017 03 24;444:19-25. Epub 2017 Jan 24.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea. Electronic address:

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http://dx.doi.org/10.1016/j.mce.2017.01.037DOI Listing
March 2017

Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation.

J Cardiovasc Ultrasound 2016 Dec 28;24(4):324-328. Epub 2016 Dec 28.

Department of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.4250/jcu.2016.24.4.324DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5234333PMC
December 2016

Long-term Consequences of Congenital Adrenal Hyperplasia due to Classic 21-hydroxylase Deficiency in Adolescents and Adults.

Exp Clin Endocrinol Diabetes 2017 Mar 10;125(3):196-201. Epub 2017 Jan 10.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0042-123037
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http://dx.doi.org/10.1055/s-0042-123037DOI Listing
March 2017

Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S45-S48. Epub 2016 Nov 30.

Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Korea.

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http://dx.doi.org/10.3345/kjp.2016.59.11.S45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177710PMC
November 2016

Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S37-S40. Epub 2016 Nov 30.

Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2016.59.11
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http://dx.doi.org/10.3345/kjp.2016.59.11.S37DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177708PMC
November 2016

Phelan-McDermid syndrome presenting with developmental delays and facial dysmorphisms.

Korean J Pediatr 2016 Nov 30;59(Suppl 1):S25-S28. Epub 2016 Nov 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2016.59.11.S25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5177705PMC
November 2016

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

J Proteome Res 2017 02 9;16(2):862-871. Epub 2016 Dec 9.

Seattle Children's Hospital Research Institute , Seattle, Washington 98101, United States.

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http://dx.doi.org/10.1021/acs.jproteome.6b00828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5574172PMC
February 2017

Biochemical and molecular characteristics of citrin deficiency in Korean children.

J Hum Genet 2017 Feb 10;62(2):305-307. Epub 2016 Nov 10.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1038/jhg.2016.131DOI Listing
February 2017

Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A.

Ann Pediatr Endocrinol Metab 2016 Sep 30;21(3):169-173. Epub 2016 Sep 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2016.21.3.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073165PMC
September 2016

Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty.

Ann Pediatr Endocrinol Metab 2016 Sep 30;21(3):136-142. Epub 2016 Sep 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2016.21.3.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073159PMC
September 2016

Genotype-Phenotype Correlation of SMN1 and NAIP Deletions in Korean Patients with Spinal Muscular Atrophy.

J Clin Neurol 2017 Jan 7;13(1):27-31. Epub 2016 Oct 7.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2017.13.1.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242148PMC
January 2017

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

Pediatr Cardiol 2016 Dec 23;37(8):1539-1547. Epub 2016 Aug 23.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88 Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.

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http://dx.doi.org/10.1007/s00246-016-1468-6DOI Listing
December 2016

MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Mol Genet Metab Rep 2016 Sep 4;8:74-6. Epub 2016 Aug 4.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea.

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http://dx.doi.org/10.1016/j.ymgmr.2016.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976613PMC
September 2016

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Ann Clin Lab Sci 2016 Jul;46(4):360-6

Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea

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July 2016

Two cases of familial cerebral cavernous malformation caused by mutations in the CCM1 gene.

Korean J Pediatr 2016 Jun 30;59(6):280-4. Epub 2016 Jun 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan college of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2016.59.6.280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958707PMC
June 2016

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.

J Hum Genet 2016 Nov 23;61(11):923-929. Epub 2016 Jun 23.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1038/jhg.2016.78DOI Listing
November 2016

Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome.

Ann Pediatr Endocrinol Metab 2016 Mar 31;21(1):26-30. Epub 2016 Mar 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2016.21.1.26DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835558PMC
March 2016

Endocrine dysfunctions in children with Williams-Beuren syndrome.

Ann Pediatr Endocrinol Metab 2016 Mar 31;21(1):15-20. Epub 2016 Mar 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2016.21.1.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835556PMC
March 2016

Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Ann Pediatr Endocrinol Metab 2016 Mar 31;21(1):1-6. Epub 2016 Mar 31.

Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2016.21.1.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4835555PMC
March 2016

Erratum to: Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.

J Clin Neurol 2016 Apr;12(2):251

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2016.12.2.251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828578PMC
April 2016

Early Detection, Referral, Investigation, and Diagnosis of Children with Growth Disorders.

Horm Res Paediatr 2016 8;85(5):325-32. Epub 2016 Apr 8.

Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK.

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http://dx.doi.org/10.1159/000444525DOI Listing
April 2017

Malfunction in Mitochondrial β-Oxidation Contributes to Lipid Accumulation in Hepatocyte-Like Cells Derived from Citrin Deficiency-Induced Pluripotent Stem Cells.

Stem Cells Dev 2016 Apr 30;25(8):636-47. Epub 2016 Mar 30.

1 Department of Biological Sciences, KAIST, Daejeon, Republic of Korea.

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http://dx.doi.org/10.1089/scd.2015.0342DOI Listing
April 2016

Identification of 1p36 deletion syndrome in patients with facial dysmorphism and developmental delay.

Korean J Pediatr 2016 Jan 22;59(1):16-23. Epub 2016 Jan 22.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3345/kjp.2016.59.1.16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4753195PMC
January 2016

Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.

J Clin Neurol 2016 Jan;12(1):85-92

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3988/jcn.2016.12.1.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4712291PMC
January 2016

Diagnostic Value of Ceruloplasmin in the Diagnosis of Pediatric Wilson's Disease.

Pediatr Gastroenterol Hepatol Nutr 2015 Sep 25;18(3):187-92. Epub 2015 Sep 25.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5223/pghn.2015.18.3.187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4600703PMC
September 2015

Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.

Korean J Pediatr 2015 Aug 21;58(8):309-12. Epub 2015 Aug 21.

Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. ; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2015.58.8.
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http://dx.doi.org/10.3345/kjp.2015.58.8.309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573445PMC
August 2015

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Clin Endocrinol (Oxf) 2015 Dec 19;83(6):790-6. Epub 2015 Oct 19.

Department of Paediatrics, Asan Medical Centre Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1111/cen.12944DOI Listing
December 2015

Impaired osteogenesis in Menkes disease-derived induced pluripotent stem cells.

Stem Cell Res Ther 2015 Sep 7;6:160. Epub 2015 Sep 7.

Department of Biological Science, Korea Advanced Institute of Science Technology (KAIST), Daejeon, 305-701, Republic of Korea.

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http://dx.doi.org/10.1186/s13287-015-0147-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4562349PMC
September 2015

Phenotypic variability of a terminal 7q deletion/8q duplication in Korean siblings.

Ann Lab Med 2015 Sep;35(5):557-60

Department of Pediatrics, Division of Neonatology, Asan Medical Center Children's Hospital, University of Ulsan College of Medicin, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2015.35.5.557DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510515PMC
September 2015

Turner syndrome presented with tall stature due to overdosage of the SHOX gene.

Ann Pediatr Endocrinol Metab 2015 Jun 30;20(2):110-3. Epub 2015 Jun 30.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. ; Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2015.20.2.110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504991PMC
June 2015

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Horm Res Paediatr 2015 8;84(2):73-8. Epub 2015 Jul 8.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1159/000381624DOI Listing
May 2016

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Pediatr Gastroenterol Hepatol Nutr 2015 Jun 29;18(2):138-43. Epub 2015 Jun 29.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5223/pghn.2015.18.2.138DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4493248PMC
June 2015

A Probable Korean Case of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.

Can J Neurol Sci 2015 Jul;42(4):271-3

1Department of Neurology and Parkinson's Disease Centre,Korea University Guro Hospital,Korea University College of Medicine,Seoul,Korea.

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http://www.journals.cambridge.org/abstract_S0317167115000384
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http://dx.doi.org/10.1017/cjn.2015.38DOI Listing
July 2015

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Horm Res Paediatr 2015 27;84(2):116-23. Epub 2015 Jun 27.

Genome Research Center for Birth Defects and Genetic Diseases, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1159/000431324DOI Listing
May 2016

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.

Horm Res Paediatr 2015 15;83(4):288-92. Epub 2015 Apr 15.

Division of Pediatric Endocrinology and Metabolism, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.

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http://dx.doi.org/10.1159/000371466DOI Listing
February 2016

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.

Ann Pediatr Endocrinol Metab 2015 Mar 31;20(1):27-33. Epub 2015 Mar 31.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.6065/apem.2015.20.1.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4397270PMC
March 2015

Liver transplantation for metabolic liver disease: experience at a living donor dominant liver transplantation center.

Pediatr Gastroenterol Hepatol Nutr 2015 Mar 30;18(1):48-54. Epub 2015 Mar 30.

Division of Hepato-Biliary Surgery and Liver Transplantation, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.5223/pghn.2015.18.1.48DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392000PMC
March 2015