Search Results - Gu-Hwan Kim

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  1. 1
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    Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel mutation by Sung Yeon Ahn, Gu-Hwan Kim, Han-Wook Yoo

    Published 2015
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  2. 2
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    Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo

    Published 2016
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  3. 3
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    Transient neonatal diabetes mellitus with macroglossia diagnosed by methylation specific PCR (MS-PCR) by Hye Young Jin, Jin-Ho Choi, Gu-Hwan Kim, Han-Wook Yoo

    Published 2010
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  4. 4
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    Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome by Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Published 2023
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  5. 5
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    p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia by Hye Won Park, Byung Ok Kwak, Gu-Hwan Kim, Han-Wook Yoo, Sochung Chung

    Published 2013
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  6. 6
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    Compound heterozygous mutations of gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review by Se Jin An, Sook Za Kim, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

    Published 2016
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  7. 7
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    Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome by Ji Won Koh, So Young Kang, Gu Hwan Kim, Han Wook Yoo, Jeesuk Yu

    Published 2013
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  8. 8
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    Maternal 3-methylcrotonyl-coenzyme A carboxylase deficiency with elevated 3-hydroxyisovalerylcarnitine in breast milk by Kyung Lae Cho, Yeo Jin Kim, Song Hyun Yang, Gu-Hwan Kim, Jun Hwa Lee

    Published 2016
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  9. 9
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    Testicular adrenal rest tumors in a patient with untreated congenital adrenal hyperplasia by Hye Young Jin, Jin Ho Choi, Gu Hwan Kim, Chung Sik Lee, Han Wook Yoo

    Published 2011
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  10. 10
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    A Korean boy with atypical X-linked adrenoleukodystrophy confirmed by an unpublished mutation of by Hye Jeong Jwa, Keon Su Lee, Gu Hwan Kim, Han Wook Yoo, Han Hyuk Lim

    Published 2014
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  11. 11
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    Long-term clinical course of a patient with mucopolysaccharidosis type IIIB by Ja Hye Kim, Yang Hyun Chi, Gu-Hwan Kim, Han-Wook Yoo, Jun Hwa Lee

    Published 2016
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  12. 12
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    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta by Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Published 2022
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  13. 13
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    Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center by Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Published 2021
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  14. 14
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    Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and mutation by Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim

    Published 2013
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  15. 15
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    Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene by Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Published 2024
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  16. 16
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    Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia by Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Published 2017
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  17. 17
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    Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A by Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2016
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  18. 18
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    A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing by Yoon-Myung Kim, Go Hun Seo, Gu-Hwan Kim, Jung Min Ko, Jin-Ho Choi, Han-Wook Yoo

    Published 2018
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  19. 19
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    Chronic intermittent form of isovaleric aciduria in a 2-year-old boy by Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo

    Published 2013
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  20. 20
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    A novel mutation within gene in a young girl with hypophosphatemic rickets and review of literature by Chong Kun Cheon, Hoon Sang Lee, Su Yung Kim, Min Jung Kwak, Gu-Hwan Kim, Han-Wook Yoo

    Published 2014
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