소아청소년과
양아람
진료분야 1형 및 2형 당뇨 (인공췌장클리닉), 희귀유전질환 (Turner syndrome, Prader-Willi syndrome, 골이형성증 그외 유전대사질환-성인포함), 리소좀축적질환 (뮤코다당증, 고셔병, 폼페병), 내분비 질환 (성장/사춘기, 소아비만, 갑상선, 부신 및 뇌하수체질환 등)
진료예약모바일로 확인하실 경우 표를 좌우로 움직여 내용을 확인 하실 수 있습니다.
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진료과 사정에 따라 진료 일정이 변경될 수 있습니다. 자세한 일정은 진료과로 문의 바랍니다.
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진료과 사정에 따라 진료 일정이 변경될 수 있습니다. 자세한 일정은 진료과로 문의 바랍니다.
- 외래진료
- 국내 학회
- 국외 학회
- 강의
- 휴가
- 기타
[★ 목 오전 당뇨, 희귀 유전질환 특수클리닉 → 전용 예약번호 : 02-3704-4212]
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- 대한의학유전학회 정회원 및 임상유전학 인증의
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- Asia Pacific Pediatric Endocrine Society (APPES) 정회원
- 現 대한소아내분비학회 진료지침위원회 부간사
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- 2018 대한소아내분비학회 학술연구비수상
- 2023 대한비만학회 JOMES 연구비 수상
- 논문 더보기
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- Kwak JH, Choi YJ, Kim S, Yang A. Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II. J Inherit Metab Dis. 2025 Jan;48(1):e12779. doi: 10.1002/jimd.12779. Epub 2024 Jul 30. PMID: 39076005.
- Lee YJ, Cheon CK, Suh J, Moon JE, Ahn MB, Chang SH, Lee J, Choi JH, Kim M, Lim HH, Kim J, Kim SH, Lee HS, Lee Y, Kang E, Kim SY, Hong YH, Yang S, Han HS, Chung S, Cho WK, Kim EY, Kim JK, Shim KS, Yoo EG, Kim HS, Yang A, Kim S, Nam HK, Cho SY, Lee YA. Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study). Ann Pediatr Endocrinol Metab. 2024 Dec;29(6):349-355. doi: 10.6065/apem.2448272.136. Epub 2024 Dec 31. PMID: 39778403; PMCID: PMC11725631.
- Thesis (Ph.D.) Sungkyunkwan University : Department of Medicine, 2023. 2, Therapeutic potential of intracerebroventricular rhSGSH enzyme replacement therapy in MPSIIIA mice (https://www.dcollection.net/handler/skku/000000172738)
- Yang A, Kim S, Choi YJ. Impact of Nontreatment Duration and Keratopathy on Major Adverse Cardiovascular Events in Fabry Disease: A Nationwide Cohort Study. J Clin Med. 2024 Jan 15;13(2). doi: 10.3390/jcm13020479. PubMed PMID: 38256613; PubMed Central PMCID: PMC10817061.
- Kim SJ, Kim JH, Hong YH, Chung IH, Lee EB, Kang E, Kim J, Yang A, Rhie YJ, Yoo EG, Shin YL, Choi JH, Kim SY, Lee J. 2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents. Ann Pediatr Endocrinol Metab. 2023 Sep;28(3):168-177. doi: 10.6065/apem.2346168.084. Epub 2023 Sep 19. PubMed PMID: 37798893; PubMed Central PMCID: PMC10556443.
- Park EG, Seo GH, Yang A. DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review. Ann Clin Lab Sci. 2023 Mar;53(2):325-333. Review. PubMed PMID: 37094863.
- Yoo E, Kim S, Jung HL, Shim JY, Shim JW, Kim DS, Kwak JH, Kim ES, Yang A. Impact of 6-month triptorelin formulation on predicted adult height and basal gonadotropin levels in patients with central precocious puberty. Front Endocrinol (Lausanne). 2023;14:1134977. doi: 10.3389/fendo.2023.1134977. eCollection 2023. PubMed PMID: 36875449; PubMed Central PMCID: PMC9982112.
- Kim MS, Yang A, Noh ES, Kim C, Bae GY, Lim HH, Park HD, Cho SY, Jin DK. Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III. J Pers Med. 2022 Apr 21;12(5). doi: 10.3390/jpm12050665. PubMed PMID: 35629088; PubMed Central PMCID: PMC9145712.
- Yang A, Jung N, Kim S, Lee JE. Association Between Non-invasive Diagnostic Methods of Liver Fibrosis and Type 2 Diabetes in Pediatric Patients With Non-alcoholic Fatty Liver Disease. Front Pediatr. 2022;10:825141. doi: 10.3389/fped.2022.825141. eCollection 2022. PubMed PMID: 35223701; PubMed Central PMCID: PMC8866638.
- Cho SY, Kang D, Im M, Yang A, Kim MS, Kim J, Noh ES, Kwon EK, Choi E, Han S, Park YA, Kwak MJ, Kim Y, Cho J, Jin DK. Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome. Epidemiol Health. 2022;44:e2022014. doi: 10.4178/epih.e2022014. Epub 2022 Jan 10. PubMed PMID: 35038830; PubMed Central PMCID: PMC9684004.
- Bae S, Yang A, Kim J, Lee HJ, Park HK. Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review. BMC Med Genomics. 2021 Dec 20;14(1):297. doi: 10.1186/s12920-021-01148-x. Review. PubMed PMID: 34930245; PubMed Central PMCID: PMC8686292.
- Lee JE, Lee KH, Park MJ, Yang S, Kim EY, Rhie YJ, Jung MH, Yang A, Kim SH, Chung LY, Ko SY, Lee YJ, Nedjatian N, Chung WY. The role of growth hormone device optimization in patient-reported outcomes: real-world evidence from South Korea. Expert Rev Med Devices. 2021 Jan;18(1):91-106. doi: 10.1080/17434440.2021.1864324. Epub 2021 Mar 8. PubMed PMID: 33307881.
- Kim SJ, Yang A, Park JS, Kwon DG, Lee JS, Kwon YS, Lee JE. Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review. Front Genet. 2020;11:579805. doi: 10.3389/fgene.2020.579805. eCollection 2020. PubMed PMID: 33262785; PubMed Central PMCID: PMC7687677.
- Kim H, Shim JY, Ko JH, Yang A, Shim JW, Kim DS, Jung HL, Kwak JH, Sol IS. Multisystem Inflammatory Syndrome in Children Related to COVID-19: the First Case in Korea. J Korean Med Sci. 2020 Nov 9;35(43):e391. doi: 10.3346/jkms.2020.35.e391. PubMed PMID: 33169560; PubMed Central PMCID: PMC7653165.
- Park EG, Kim EJ, Kim EJ, Kim HY, Kim SH, Yang A. Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review. Diagnostics (Basel). 2020 Oct 4;10(10). doi: 10.3390/diagnostics10100783. PubMed PMID: 33020433; PubMed Central PMCID: PMC7600578.
- Kim YJ, Lee MY, Yang AR, Sol IS, Kwak JH, Jung HL, Shim JW, Kim DS, Shim JY. Trends of Sensitization to Inhalant Allergens in Korean Children Over the Last 10 Years. Yonsei Med J. 2020 Sep;61(9):797-804. doi: 10.3349/ymj.2020.61.9.797. PubMed PMID: 32882764; PubMed Central PMCID: PMC7471077.
- Yang A, Cho SY, Park H, Kim MS, Kong DS, Shin HJ, Jin DK. Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center. Front Endocrinol (Lausanne). 2020;11:527. doi: 10.3389/fendo.2020.00527. eCollection 2020. PubMed PMID: 32849307; PubMed Central PMCID: PMC7417303.
- Yang A, Cho SY, Kwak MJ, Kim SJ, Park SW, Jin DK, Lee JE. Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency. Sci Rep. 2019 Nov 7;9(1):16181. doi: 10.1038/s41598-019-52644-1. PubMed PMID: 31700044; PubMed Central PMCID: PMC6838176.
- Kim S, Lee YS, Kim DH, Yang A, Lee T, Hwang SD, Kwon DG, Lee JE. Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature. Ann Pediatr Endocrinol Metab. 2019 Sep;24(3):207-211. doi: 10.6065/apem.2019.24.3.207. Epub 2019 Sep 30. PubMed PMID: 31607116; PubMed Central PMCID: PMC6790868.
- Yang A, Choi JH, Sohn YB, Eom Y, Lee J, Yoo HW, Jin DK. 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. Orphanet J Rare Dis. 2019 Sep 11;14(1):216. doi: 10.1186/s13023-019-1195-1. PubMed PMID: 31511031; PubMed Central PMCID: PMC6739953.
- Kim MS, Song A, Im M, Huh J, Kang IS, Song J, Yang A, Kim J, Kwon EK, Choi EJ, Han SJ, Park HD, Cho SY, Jin DK. Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center. Korean J Pediatr. 2019 Jun;62(6):224-234. doi: 10.3345/kjp.2018.06968. Epub 2018 Oct 4. PubMed PMID: 30360039; PubMed Central PMCID: PMC6584236.
- Yang A, Kim J, Jang JH, Lee C, Lee JE, Cho SY, Jin DK. Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum. Ann Hum Genet. 2019 May;83(3):160-170. doi: 10.1111/ahg.12298. Epub 2019 Feb 7. PubMed PMID: 30730578.
- Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK. A case of de novo 18p deletion syndrome with panhypopituitarism. Ann Pediatr Endocrinol Metab. 2019 Mar;24(1):60-63. doi: 10.6065/apem.2019.24.1.60. Epub 2019 Mar 31. PubMed PMID: 30943682; PubMed Central PMCID: PMC6449612.
- Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK. A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets. Ann Pediatr Endocrinol Metab. 2018 Dec;23(4):229-234. doi: 10.6065/apem.2018.23.4.229. Epub 2018 Dec 31. PubMed PMID: 30599486; PubMed Central PMCID: PMC6312911.
- Choi J, Yang A, Song A, Lim M, Kim J, Jang JH, Park KT, Cho S, Jin DK. Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review. Ann Clin Lab Sci. 2018 Nov;48(6):776-781. Review. PubMed PMID: 30610049.
- Jeong HI, Yang A, Kim J, Jang JH, Cho SY, Jin DK. First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review. Ann Clin Lab Sci. 2018 Jul;48(4):522-527. Review. PubMed PMID: 30143497.
- Lee J, Kim J, Yang A, Cho SY, Jin DK. Etiological trends in male central precocious puberty. Ann Pediatr Endocrinol Metab. 2018 Jun;23(2):75-80. doi: 10.6065/apem.2018.23.2.75. Epub 2018 Jun 20. PubMed PMID: 29969878; PubMed Central PMCID: PMC6057022.
- Yang A, Kim J, Ki CS, Hong SH, Cho SY, Jin DK. HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report. BMC Med Genet. 2017 Oct 26;18(1):121. doi: 10.1186/s12881-017-0484-6. PubMed PMID: 29073906; PubMed Central PMCID: PMC5659003.
- Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK. An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing. Ann Pediatr Endocrinol Metab. 2017 Sep;22(3):203-207. doi: 10.6065/apem.2017.22.3.203. Epub 2017 Sep 28. PubMed PMID: 29025208; PubMed Central PMCID: PMC5642084.
- Yang A, Kang B, Choe JY, Kim HS, Kim K, Choe YH. Prevalence and Epidemiological Characteristics of Endoscopically Proven Reflux Esophagitis in Children in Korea. Pediatr Gastroenterol Hepatol Nutr. 2017 Sep;20(3):160-166. doi: 10.5223/pghn.2017.20.3.160. Epub 2017 Sep 26. PubMed PMID: 29026732; PubMed Central PMCID: PMC5636932.
- Yang A, Kim J, Cho SY, Jin DK. Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience. Orphanet J Rare Dis. 2017 Aug 30;12(1):146. doi: 10.1186/s13023-017-0702-5. PubMed PMID: 28854950; PubMed Central PMCID: PMC5577752.
- Yang A, Cho SY, Jang JH, Kim J, Kim SZ, Lee BH, Yoo HW, Jin DK. Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing. Clin Chim Acta. 2017 Aug;471:191-195. doi: 10.1016/j.cca.2017.06.010. Epub 2017 Jun 13. PubMed PMID: 28619360.
- Cho EK, Kim J, Yang A, Cho SY, Jin DK. 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis. Ann Pediatr Endocrinol Metab. 2017 Jun;22(2):129-132. doi: 10.6065/apem.2017.22.2.129. Epub 2017 Jun 28. PubMed PMID: 28690993; PubMed Central PMCID: PMC5495980.
- Cho EK, Kim J, Yang A, Ki CS, Lee JE, Cho SY, Jin DK. Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study. Orphanet J Rare Dis. 2016 Aug 9;11(1):113. doi: 10.1186/s13023-016-0496-x. PubMed PMID: 27506760; PubMed Central PMCID: PMC4977675.
- Yang A, Kang B, Choi SY, Cho JB, Kim YJ, Jeon TY, Choe YH. Acute Necrotizing Pancreatitis Associated with Mycoplasma pneumoniae Infection in a Child. Pediatr Gastroenterol Hepatol Nutr. 2015 Sep;18(3):209-15. doi: 10.5223/pghn.2015.18.3.209. Epub 2015 Sep 25. PubMed PMID: 26473143; PubMed Central PMCID: PMC4600707.
- Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK. Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion. Ann Pediatr Endocrinol Metab. 2015 Mar;20(1):40-5. doi: 10.6065/apem.2015.20.1.40. Epub 2015 Mar 31. PubMed PMID: 25883926; PubMed Central PMCID: PMC4397272.
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