Han-Wook Yoo

Han-Wook Yoo

UNVERIFIED PROFILE

Are you Han-Wook Yoo?   Register this Author

Register author
Han-Wook Yoo

Han-Wook Yoo

Publications by authors named "Han-Wook Yoo"

Are you Han-Wook Yoo?   Register this Author

100Publications

947Reads

-Profile Views

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

Korean J Pediatr 2018 Dec 3. Epub 2018 Dec 3.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3345/kjp.2018.06842DOI Listing
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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 Nov 29:1-8. Epub 2018 Nov 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000493468DOI Listing
November 2018

Biochemical and molecular characterisation of neurological Wilson disease.

J Med Genet 2018 Sep 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.

View Article

Download full-text PDF

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

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

Exp Clin Endocrinol Diabetes 2018 Sep 14. Epub 2018 Sep 14.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/a-0681-6608DOI Listing
September 2018

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms18122591DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5751194PMC
December 2017

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

J Med Genet 2017 Nov 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

Source
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 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.

Horm Res Paediatr 2015 5;83(3):204-10. Epub 2015 Mar 5.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000371445DOI Listing
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.

Cardiol Young 2015 Aug 12;25(6):1093-8. Epub 2014 Sep 12.

1Department of Pediatrics,Asan Medical Center Children's Hospital,University of Ulsan College of Medicine,Seoul,Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/S1047951114001656DOI Listing
August 2015

Clinical features, outcomes, and genetic analysis in Korean children with Alagille syndrome.

Pediatr Int 2015 Aug 6;57(4):552-7. Epub 2015 May 6.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ped.12602DOI Listing
August 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.

View Article

Download full-text PDF

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

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

J Hum Genet 2015 Jul 19;60(7):395-7. Epub 2015 Mar 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2015.30DOI Listing
July 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1017/cjn.2015.38DOI Listing
July 2015

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

Horm Res Paediatr 2014 20;82(4):252-60. Epub 2014 Sep 20.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000362235DOI Listing
June 2015

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

Enhanced SMAD1 Signaling Contributes to Impairments of Early Development in CFC-iPSCs.

Stem Cells 2015 May;33(5):1447-55

Department of Biological Sciences and Center for Stem Cell Differentiation, KAIST, Daejeon, Republic of Korea.

View Article

Download full-text PDF

Source
http://file2.selleckchem.com/citations/LDN193189-Stem-Cells-
Web Search
http://doi.wiley.com/10.1002/stem.1963
Publisher Site
http://dx.doi.org/10.1002/stem.1963DOI Listing
May 2015

Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

Pediatr Neurol 2015 Mar 3;52(3):352-5. Epub 2014 Dec 3.

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. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.11.017DOI Listing
March 2015

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome.

Obstet Gynecol Sci 2015 Mar 16;58(2):179-82. Epub 2015 Mar 16.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5468/ogs.2015.58.2.179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366873PMC
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis.

Gut 2015 Feb 29;64(2):359-60. Epub 2014 Apr 29.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/gutjnl-2014-307256DOI Listing
February 2015

Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.

Metab Brain Dis 2015 Feb 13;30(1):75-81. Epub 2014 Jun 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-014-9569-5DOI Listing
February 2015

The first Korean case of HDR syndrome confirmed by clinical and molecular investigation.

Yonsei Med J 2015 Jan;56(1):300-3

Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3349/ymj.2015.56.1.300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4276771PMC
January 2015

Variable phenotypes of multiple synostosis syndrome in patients with novel NOG mutations.

Joint Bone Spine 2014 Dec 17;81(6):533-6. Epub 2014 Sep 17.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbspin.2014.07.006DOI Listing
December 2014

A novel TSC2 mutation in a Korean patient with tuberous sclerosis complex.

Neurol Sci 2014 Sep 26;35(9):1487-9. Epub 2014 Apr 26.

Department of Microbiology and Integrated Research Center for Genome Polymorphism, College of Medicine, Catholic University of Korea, Songeui Campus, 222 Banpo-daero, Seocho-gu, Seoul, 137-701, Republic of Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10072-014-1803-8DOI Listing
September 2014

OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.

Pediatr Neurol 2014 Sep 29;51(3):354-359.e1. Epub 2014 May 29.

Department of Pediatrics, Pediatric Genetics and Metabolism, Pusan National University Children's Hospital, Pusan National University School of Medicine, Yangsan, South Korea; Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.029DOI Listing
September 2014

A de novo microdeletion of ANKRD11 gene in a Korean patient with KBG syndrome.

Ann Lab Med 2014 Sep 21;34(5):390-4. Epub 2014 Aug 21.

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

View Article

Download full-text PDF

Source
https://synapse.koreamed.org/DOIx.php?id=10.3343/alm.2014.34
Publisher Site
http://dx.doi.org/10.3343/alm.2014.34.5.390DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4151010PMC
September 2014

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1.

Korean J Pediatr 2014 Sep 30;57(9):416-9. Epub 2014 Sep 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3345/kjp.2014.57.9.416DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4198957PMC
September 2014

Long-term follow-up on Cushing disease patient after transsphenoidal surgery.

Ann Pediatr Endocrinol Metab 2014 Sep 30;19(3):164-8. Epub 2014 Sep 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2014.19.3.164DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208257PMC
September 2014

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.

J Hum Genet 2014 May 13;59(5):276-9. Epub 2014 Mar 13.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/jhg.2014.16DOI Listing
May 2014

Thanatophoric dysplasia in a dichorionic twin confirmed by genetic analysis at the early second trimester: A case report and literature review.

Obstet Gynecol Sci 2014 Mar 15;57(2):151-4. Epub 2014 Mar 15.

Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.

View Article

Download full-text PDF

Source
https://synapse.koreamed.org/DOIx.php?id=10.5468/ogs.2014.57
Publisher Site
http://dx.doi.org/10.5468/ogs.2014.57.2.151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965699PMC
March 2014

Lowe syndrome: a single center's experience in Korea.

Korean J Pediatr 2014 Mar 31;57(3):140-8. Epub 2014 Mar 31.

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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3345/kjp.2014.57.3.140DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4000760PMC
March 2014

Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency.

Ann Pediatr Endocrinol Metab 2014 Mar 31;19(1):32-5. Epub 2014 Mar 31.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2014.19.1.32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049546PMC
March 2014

A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.

Ann Pediatr Endocrinol Metab 2014 Mar 31;19(1):36-41. Epub 2014 Mar 31.

Medical Genetics Clinic and Laboratory, Asan Medical Center Children's Hospital, Seoul, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2014.19.1.36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4049552PMC
March 2014

Modeling of Menkes disease via human induced pluripotent stem cells.

Biochem Biophys Res Commun 2014 Feb 24;444(3):311-8. Epub 2014 Jan 24.

Graduate Schools of Medical Science and Engineering, KAIST, 291 Daehak-ro, Yuseong-gu, Daejeon 305-701, Republic of Korea; Department of Biological Sciences, KAIST, 291 Daehak-ro, Yuseong-gu, Daejeon 305-701, Republic of Korea. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bbrc.2014.01.038DOI Listing
February 2014

Insulin pump therapy in transient neonatal diabetes mellitus.

Ann Pediatr Endocrinol Metab 2013 Sep 30;18(3):148-51. Epub 2013 Sep 30.

Department of Pediatrics, CHA University College of Medicine, Seongnam, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2013.18.3.148DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027075PMC
September 2013

Turner syndrome with primary hyperparathyroidism.

Ann Pediatr Endocrinol Metab 2013 Jun 30;18(2):85-9. Epub 2013 Jun 30.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2013.18.2.85DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027095PMC
June 2013

Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome.

Ann Pediatr Endocrinol Metab 2013 Jun 30;18(2):90-4. Epub 2013 Jun 30.

Department of Pediatrics, Dankook University College of Medicine, Cheonan, Korea.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.6065/apem.2013.18.2.90DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4027096PMC
June 2013