Publications by authors named "Han-Wook Yoo"

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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.

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.

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.

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.

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.

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
Mol Med 2016 Feb 18. Epub 2016 Feb 18.
Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

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.

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.

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.

A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.
J Korean Med Sci 2015 Apr 19;30(4):378-84. Epub 2015 Mar 19.
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.
J Pediatr Gastroenterol Nutr 2015 Mar;60(3):e19-22
*Department of Pediatrics †Medical Genetics Center ‡Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, University of Ulsan College of Medicine §Green Cross Reference Laboratory ||Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

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:

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.

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.

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:

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:


Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.
J Hum Genet 2013 Sep 27;58(9):604-10. Epub 2013 Jun 27.
1] Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea [2] Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea [3] Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.



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