Lesch–Nyhan syndrome: a case report

por Park, Han Ick, Kim, Gu-Hwan, Ahn, Kang-Min
Publicado 2023

The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation

por Cheon, Chong-Kun, Kim, Gu-Hwan, Yoo, Han-Wook
Publicado 2015

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

por Ahn, Sung Yeon, Kim, Gu-Hwan, Yoo, Han-Wook
Publicado 2015

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

por Choi, Jin-Ho, Kim, Gu-Hwan, Yoo, Han-Wook
Publicado 2016

Clinical Features of Congenital Adrenal Insufficiency Including Growth Patterns and Significance of ACTH Stimulation Test

por Koh, Ji Won, Kim, Gu Hwan, Yoo, Han Wook, Yu, Jeesuk
Publicado 2013

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome

por Kim, Ja Hye, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2023

Familial Glucocorticoid Deficiency with a Point Mutation in the ACTH Receptor: A Case Report

por Kim, Chan Jong, Woo, Young Jong, Kim, Gu Hwan, Yoo, Han Wook
Publicado 2009

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

por Park, Hye Won, Kwak, Byung Ok, Kim, Gu-Hwan, Yoo, Han-Wook, Chung, Sochung
Publicado 2013

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

por Koh, Ji Won, Kang, So Young, Kim, Gu Hwan, Yoo, Han Wook, Yu, Jeesuk
Publicado 2013

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

por An, Se Jin, Kim, Sook Za, Kim, Gu Hwan, Yoo, Han Wook, Lim, Han Hyuk
Publicado 2016

Identification of a Novel Mutation of CFTR Gene in a Korean Patient with Cystic Fibrosis

por Ko, Jung Min, Kim, Gu-Hwan, Kim, Kyung Mo, Hong, Soo-Jong, Yoo, Han-Wook
Publicado 2008

Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia

por Jin, Hye Young, Choi, Jin Ho, Kim, Gu Hwan, Lee, Chung Sik, Yoo, Han Wook
Publicado 2011

A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of ABCD1

por Jwa, Hye Jeong, Lee, Keon Su, Kim, Gu Hwan, Yoo, Han Wook, Lim, Han Hyuk
Publicado 2014

Endocrine dysfunctions in patients with mitochondrial diseases

por Cho, Ja Hyang, Kim, Ja Hye, Choi, Jin-Ho, Kim, Gu-Hwan, Yoo, Han-Wook
Publicado 2015

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

por Kim, Ja Hye, Chi, Yang Hyun, Kim, Gu-Hwan, Yoo, Han-Wook, Lee, Jun Hwa
Publicado 2016

Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk

por Cho, Kyung Lae, Kim, Yeo Jin, Yang, Song Hyun, Kim, Gu-Hwan, Lee, Jun Hwa
Publicado 2016

Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and SPINK1 mutation

por Rho, Eun Sam, Kim, Earl, Koh, Hong, Yoo, Han-Wook, Lee, Beom Hee, Kim, Gu-Hwan
Publicado 2013

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

por Kim, Ja Hye, Lee, Yena, Choi, Yunha, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2021

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

por Kim, Ja Hye, Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2022

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

por Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2022