Works by Yoo, Han-Wook

Results: 80

A Randomized, Double‐Blind, 2‐Treatment, 2‐Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous Administration

Published in:

Molecular Genetics & Genomic Medicine, 2025, v. 13, n. 6, p. 1, doi. 10.1002/mgg3.70111

By:

Kang, Eungu;
Kim, Dohyung;
Hwang, Soojin;
Lemech, Charlotte;
Wharton, Jessica;
Lee, Yongyoon;
Yoo, Han Wook;
Lee, Beom Hee

Publication type:

Article

KMD: Korean mutation database for genes related to diseases.

Published in:

Human Mutation, 2012, v. 33, n. 4, p. E2332, doi. 10.1002/humu.22039

By:

Park, Mi-Hyun;
Koo, Soo Kyung;
Lee, Jin-Sung;
Yoo, Han-Wook;
Kim, Jong-Won;
Cheong, Hae Il;
Park, Hyun-Young

Publication type:

Article

Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.

Published in:

Human Mutation, 2007, v. 28, n. 11, p. 1108, doi. 10.1002/humu.20574

By:

Park, Sangwook;
Park, Jung-Young;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Kim, Kyung-Mo;
Kim, Jong-Bae;
Yoo, Han-Wook

Publication type:

Article

Identification of novel mutations in the human ornithine transcarbamylase ( OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.

Published in:

Human Mutation, 2006, v. 27, n. 11, p. 1159, doi. 10.1002/humu.9465

By:

Kim, Gu-Hwan;
Choi, Jin-Ho;
Lee, Hyung-Haon;
Park, Sangwook;
Kim, Sung-Su;
Yoo, Han-Wook

Publication type:

Article

Asia‐Pacific Consensus Recommendations on X‐Linked Hypophosphatemia: Diagnosis, Multidisciplinary Management, and Transition From Pediatric to Adult Care.

Published in:

JBMR Plus, 2023, v. 7, n. 6, p. 1, doi. 10.1002/jbm4.10744

By:

Munns, Craig F;
Yoo, Han‐Wook;
Jalaludin, Muhammad Yazid;
Vasanwala, Rashida;
Chandran, Manju;
Rhee, Yumie;
BUT, Wai Man;
Kong, Alice Pik‐Shan;
Su, Pen‐Hua;
Numbenjapon, Nawaporn;
Namba, Noriyuki;
Imanishi, Yasuo;
Clifton‐Bligh, Roderick J;
Luo, Xiaoping;
Xia, Weibo

Publication type:

Article

First‐in‐Asian Phase I Study of the Anti‐Fibroblast Growth Factor 23 Monoclonal Antibody, Burosumab: Safety and Pharmacodynamics in Adults With X‐linked Hypophosphatemia.

Published in:

JBMR Plus, 2019, v. 3, n. 2, p. N.PAG, doi. 10.1002/jbm4.10074

By:

Cheong, Hae Il;
Yoo, Han‐Wook;
Adachi, Masanori;
Tanaka, Hiroyuki;
Fujiwara, Ikuma;
Hasegawa, Yukihiro;
Harada, Daisuke;
Sugimoto, Maiko;
Okada, Yosuke;
Kato, Masaki;
Shimazaki, Ryutaro;
Ozono, Keiichi;
Seino, Yoshiki

Publication type:

Article

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

Published in:

2011

By:

Bae, Keun;
Kim, Bo;
Choi, Jin-Ho;
Lee, Joo;
Park, Young;
Kim, Gu-Hwan;
Yoo, Han;
Seo, Jong;
Bae, Keun Wook;
Kim, Bo Eun;
Lee, Joo Hoon;
Park, Young Seo;
Yoo, Han Wook;
Seo, Jong Jin

Publication type:

journal article

Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.

Published in:

2011

By:

Hye Young Jin;
Jin-Ho Choi;
Beom Hee Lee;
Gu-Hwan Kim;
Hyung Kyung Kim;
Han-Wook Yoo;
Jin, Hye Young;
Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Gu-Hwan;
Kim, Hyung Kyung;
Yoo, Han-Wook

Publication type:

journal article

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Published in:

2009

By:

Jung Min Ko;
Chong-Kun Cheon;
Gu-Hwan Kim;
Han-Wook Yoo;
Ko, Jung Min;
Cheon, Chong-Kun;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

journal article

Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia.

Published in:

2002

By:

Yoo, Han-Wook;
Shin, Young-Lim;
Seo, Eul-Ju;
Kim, Gu-Hwan

Publication type:

journal article

Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors.

Published in:

Frontiers in Endocrinology, 2021, v. 11, p. N.PAG, doi. 10.3389/fendo.2021.610730

By:

Lee, Yena;
Shin, Juhee;
Choi, Yunha;
Kim, Hyery;
Koh, Kyung-Nam;
Im, Ho Joon;
Yoo, Han-Wook;
Choi, Jin-Ho

Publication type:

Article

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

Published in:

2015

By:

Jhang, Won Kyoung;
Lee, Beom Hee;
Kim, Gu-Hwan;
Lee, Jin-Ok;
Yoo, Han-Wook

Publication type:

journal article

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.

Published in:

2019

By:

Yang, Aram;
Choi, Jin-Ho;
Sohn, Young Bae;
Eom, Yunae;
Lee, Jiyoon;
Yoo, Han-Wook;
Jin, Dong-Kyu

Publication type:

journal article

Effect of thalamotomy on focal hand dystonia in a family with DYT1 mutation.

Published in:

Movement Disorders, 2008, v. 23, n. 15, p. 2251, doi. 10.1002/mds.22337

By:

Kim, Mi J.;
Jeon, Sang R.;
Yoo, Han-Wook;
Kim, Gu-Hwan;
Lee, Myoung C.;
Chung, Sun J.

Publication type:

Article

Focal hand dystonia in a patient with PANK2 mutation.

Published in:

Movement Disorders, 2008, v. 23, n. 3, p. 466, doi. 10.1002/mds.21880

By:

Chung, Sun J.;
Lee, Jae-Hong;
Lee, Myoung C.;
Yoo, Han-Wook;
Kim, Gu-Hwan

Publication type:

Article

Trajectories in glycated hemoglobin and body mass index in children and adolescents with diabetes using the common data model.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-94194-5

By:

Lee, Yun Jeong;
Yoo, Sooyoung;
Yi, Soyoung;
Kim, Seok;
Lee, Chunggak;
Cho, Jihoon;
Ahn, Soyeon;
Choi, Sunkyu;
Hwang, Hee;
Lee, Young Ah;
Shin, Choong Ho;
Yoon, Hyung-Jin;
Kim, Kwangsoo;
Song, Eunhye;
Choi, Jin Ho;
Yoo, Han Wook;
Kim, Young-Hak;
Oh, Ji Seon;
Kang, Eun-Ae;
Baek, Ga Kyoung

Publication type:

Article

Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.

Published in:

Cells (2073-4409), 2020, v. 9, n. 4, p. 872, doi. 10.3390/cells9040872

By:

Kim, Dongkyu;
Kim, Su-Bin;
Ryu, Jung Lim;
Hong, Heesu;
Chang, Jin-Hyuk;
Yoo, Tack-Jin;
Jin, Xiong;
Park, Han-Jin;
Han, Choongseong;
Lee, Beom Hee;
Choi, Jin-Ho;
Yoo, Han-Wook;
Kim, Jong-Hoon;
Woo, Dong-Hun

Publication type:

Article

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

Published in:

2018

By:

Kang, Eungu;
Kim, Yoon-Myung;
Kang, Minji;
Heo, Sun-Hee;
Kim, Gu-Hwan;
Choi, In-Hee;
Choi, Jin-Ho;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

journal article

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.

Published in:

Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862

By:

Kim, Eun Na;
Do, Hyo‐Sang;
Jeong, Hwangkyo;
Kim, Taeho;
Heo, Sun Hee;
Kim, Yoo‐Mi;
Cheon, Chong Kun;
Lee, Yena;
Choi, Yunha;
Choi, In Hee;
Choi, Jeongmin;
Yoo, Han‐Wook;
Kim, Chong Jai;
Zimran, Ari;
Kim, Kyunggon;
Lee, Beom Hee

Publication type:

Article

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944

By:

Kim, Ja Hye;
Shin, Young‐Lim;
Yang, Seung;
Cheon, Chong Kun;
Cho, Ja Hyang;
Lee, Beom Hee;
Kim, Gu‐Hwan;
Lee, Jin Ok;
Seo, Eul Joo;
Choi, Jin‐Ho;
Yoo, Han‐Wook

Publication type:

Article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

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

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Lee, Beom Hee;
Cho, Ja Hyang;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

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.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16

By:

Woo, Kyu Ha;
Lee, Beom Hee;
Heo, Sun Hee;
Kim, Jae-Min;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, In-Hee;
Yang, Song Hyun;
Yoo, Han-Wook

Publication type:

Article

Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith-Wiedemann syndrome and Silver-Russell syndrome.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 9, p. 604, doi. 10.1038/jhg.2013.67

By:

Lee, Beom Hee;
Kim, Gu-Hwan;
Oh, Tae Jeong;
Kim, Joo Hyun;
Lee, Jin-Joo;
Choi, Seung Hoon;
Lee, Joo Yeon;
Kim, Jae-Min;
Choi, In Hee;
Kim, Yoo-Mi;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations.

Published in:

Journal of Human Genetics, 2012, v. 57, n. 1, p. 62, doi. 10.1038/jhg.2011.116

By:

Jung, Chang-Woo;
Lee, Beom Hee;
Kim, Joo Hyun;
Kim, Gu-Hwan;
Lee, Jin;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Low prevalence of classical galactosemia in Korean population.

Published in:

Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152

By:

Lee, Beom Hee;
Cheon, Chong Kun;
Kim, Jae-Min;
Kang, Minji;
Kim, Joo Hyun;
Yang, Song Hyun;
Kim, Gu-Hwan;
Choi, Jin-ho;
Yoo, Han-Wook

Publication type:

Article

Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector.

Published in:

Journal of Human Genetics, 2004, v. 49, n. 10, p. 536, doi. 10.1007/s10038-004-0186-8

By:

Hong, Young;
Kim, Eun;
Yoo, Han-Wook;
Jung, Sung-Chul

Publication type:

Article

Genetic diagnosis of Beckwith Wiedemann syndrome and Silver-Russell syndrome.

Published in:

2013

By:

Kim, Yoo-Mi;
Kim, Gu-Hwan;
Lee, Beom Hee;
Lee, jin-Joo;
Choi, Seong-Hoon;
Lee, Ju Yeon;
Yoo, Han-Wook

Publication type:

Abstract

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

Published in:

Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038

By:

Kim, Yoo-Mi;
Lee, Yun-Jin;
Park, Jae Hong;
Lee, Hyoung-Doo;
Cheon, Chong Kun;
Kim, Su-Young;
Hwang, Jae-Yeon;
Jang, Ja-Hyun;
Yoo, Han-Wook

Publication type:

Article

Identification of the mechanism underlying a human chimera by SNP array analysis.

Published in:

American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2119, doi. 10.1002/ajmg.a.35476

By:

Shin, So Youn;
Yoo, Han-Wook;
Lee, Beom Hee;
Kim, Kun Suk;
Seo, Eul-Ju

Publication type:

Article

Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Published in:

2022

By:

Kang, Eungu;
Kim, Yoon-Myung;
Choi, Yunha;
Lee, Yena;
Kim, JunYoung;
Choi, In Hee;
Yoo, Han-Wook;
Yoon, Hee Mang;
Lee, Beom Hee

Publication type:

journal article

Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.

Published in:

Journal of Genetics, 2012, v. 91, n. 2, p. 233, doi. 10.1007/s12041-012-0165-3

By:

SONG, YOUNG-HWA;
KIM, GU-HWAN;
YOO, HAN-WOOK;
KIM, JUNE-BUM

Publication type:

Article

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

Published in:

Pediatric Cardiology, 2016, v. 37, n. 8, p. 1539, doi. 10.1007/s00246-016-1468-6

By:

Choi, Jin-Ho;
Lee, Beom;
Yoo, Han-Wook;
Jhang, Won;
Kim, Gu-Hwan

Publication type:

Article

A Novel Small Insertion Mutation, C.1030_1031ins (T) in α-Galactosidase A Leads to Renal Variant Fabry Disease.

Published in:

Renal Failure, 2012, v. 34, n. 3, p. 390, doi. 10.3109/0886022X.2011.647300

By:

Choi, Joon Seok;
Kim, Chang Seong;
Park, Jeong Woo;
Bae, Eun Hui;
Ma, Seong Kwon;
Choi, Yoo Duk;
Kim, Gu Hwan;
Yoo, Han Wook;
Kim, Soo Wan

Publication type:

Article

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

Published in:

Pediatrics International, 2015, v. 57, n. 4, p. 552, doi. 10.1111/ped.12602

By:

Cho, Jin Min;
Oh, Seak Hee;
Kim, Hyun Jin;
Kim, Joon Sung;
Kim, Kyung Mo;
Kim, Gu‐Hwan;
Yu, Eunsil;
Lee, Beom Hee;
Yoo, Han‐Wook

Publication type:

Article

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

Published in:

Journal of Neuro-Oncology, 2018, v. 138, n. 1, p. 55, doi. 10.1007/s11060-018-2765-0

By:

Seo, Go Hun;
Choi, Jin-Ho;
Kim, Yoon-Myung;
Koh, Kyung-Nam;
Im, Ho Joon;
Ra, Young Shin;
Yoo, Han-Wook

Publication type:

Article

The definition of neuronopathic Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 1056, doi. 10.1002/jimd.12235

By:

Schiffmann, Raphael;
Sevigny, Jeff;
Rolfs, Arndt;
Davies, Elin Haf;
Goker‐Alpan, Ozlem;
Abdelwahab, Magy;
Vellodi, Ashok;
Mengel, Eugen;
Lukina, Elena;
Yoo, Han‐Wook;
Collin‐Histed, Tanya;
Narita, Aya;
Dinur, Tama;
Revel‐Vilk, Shoshana;
Arkadir, David;
Szer, Jeff;
Wajnrajch, Michael;
Ramaswami, Uma;
Sidransky, Ellen;
Donald, Aimee

Publication type:

Article

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.

Published in:

2023

By:

Hwang, Soojin;
Choi, Yunha;
Lee, Beom Hee;
Choi, Jin‐Ho;
Kim, Ja Hye;
Yoo, Han‐Wook

Publication type:

Case Study

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature.

Published in:

Molecular Genetics & Genomic Medicine, 2023, v. 11, n. 4, p. 1, doi. 10.1002/mgg3.2127

By:

Choi, Yunha;
Choi, Jungmin;
Do, Hyosang;
Hwang, Soojin;
Seo, Go Hun;
Choi, In Hee;
Keum, Changwon;
Choi, Jin‐Ho;
Kang, Minji;
Kim, Gu‐Hwan;
Yoo, Han‐Wook;
Lee, Beom Hee

Publication type:

Article

Proteomic analysis of sera of asymptomatic, early-stage patients with Wilson's disease.

Published in:

Proteomics - Clinical Applications, 2009, v. 3, n. 10, p. 1185, doi. 10.1002/prca.200800057

By:

Park, Jung-Young;
Mun, Joo Hee;
Lee, Beom Hee;
Heo, Sun Hee;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.

Published in:

2019

By:

Choi, Jin-Ho;
Lee, Yena;
Oh, Arum;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Abstract

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

Published in:

2014

By:

Hu, Hae-Jin;
Chung, Yeun-Jun;
Yoo, Han-Wook;
Kim, Young-Hoon;
Eom, Tae-Hoon

Publication type:

Letter

Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1998, v. 11, n. 6, p. 707

By:

Yoo, Han-Wook;
Kim, Gu-Hwan

Publication type:

Article

Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.

Published in:

BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00904-5

By:

Kim, Jinsup;
Kim, Min-Sun;
Suh, Byung-Kyu;
Ko, Cheol Woo;
Lee, Kee-Hyoung;
Yoo, Han-Wook;
Shin, Choong Ho;
Hwang, Jin Soon;
Kim, Ho-Seong;
Chung, Woo Yeong;
Kim, Chan Jong;
Han, Heon-Seok;
Jin, Dong-Kyu

Publication type:

Article

Comparative proteomic analysis in children with idiopathic short stature ( ISS) before and after short-term recombinant human growth hormone (rh GH) therapy.

Published in:

Proteomics, 2013, v. 13, n. 7, p. 1211, doi. 10.1002/pmic.201200131

By:

Heo, Sun Hee;
Choi, Jin‐Ho;
Kim, Yoo‐Mi;
Jung, Chang‐Woo;
Lee, Jin;
Jin, Hye Young;
Kim, Gu‐Hwan;
Lee, Beom Hee;
Shin, Choong Ho;
Yoo, Han‐Wook

Publication type:

Article

Proteomic analysis of the hepatic tissue of Long-Evans Cinnamon (LEC) rats according to the natural course of Wilson disease.

Published in:

Proteomics, 2011, v. 11, n. 18, p. 3698, doi. 10.1002/pmic.201100122

By:

Lee, Beom H.;
Kim, Jae-Min;
Heo, Sun H.;
Mun, Joo H.;
Kim, Jihun;
Kim, Joo H.;
Jin, Hye Y.;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Correction to: SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.

Published in:

2020

By:

Ju, Younghee;
Park, Jun Sung;
Kim, Daejeong;
Kim, Bumsoo;
Lee, Jeong Ho;
Nam, Yoonkey;
Yoo, Han-Wook;
Lee, Beom Hee;
Han, Yong-Mahn

Publication type:

Correction Notice

SHP2 mutations induce precocious gliogenesis of Noonan syndrome-derived iPSCs during neural development in vitro.

Published in:

Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. 1, doi. 10.1186/s13287-020-01709-4

By:

Ju, Younghee;
Park, Jun Sung;
Kim, Daejeong;
Kim, Bumsoo;
Lee, Jeong Ho;
Nam, Yoonkey;
Yoo, Han-Wook;
Lee, Beom Hee;
Han, Yong-Mahn

Publication type:

Article

The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Beom Hee;
Cheon, Chong Kun;
Lim, Han Hyuk;
Heo, Sun-Hee;
Yoo, Han-Wook

Publication type:

journal article

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

Published in:

2020

By:

Kim, Yoo-Mi;
Choi, Jin-Ho;
Lee, Beom-Hee;
Kim, Gu-Hwan;
Kim, Kyung-Mo;
Yoo, Han-Wook

Publication type:

journal article