- Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease
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Cheon CK
- KMID: 2502852
- Clin Exp Pediatr.
- 2020 Jan;63(1):14-15.
- doi: 10.3345/kjp.2018.07402
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- Commentary on "Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty"
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Cheon CK
- KMID: 2523825
- Ann Pediatr Endocrinol Metab.
- 2021 Dec;26(4):215-216.
- doi: 10.6065/apem.2120134edi01
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- Commentary on "Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak"
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Cheon CK
- KMID: 2549313
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(4):233-234.
- doi: 10.6065/apem.2322107edi009
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- The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome
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Lee J, Kim M, Yoo S, Yoon JY, Cheon CK
- KMID: 2553021
- Ann Pediatr Endocrinol Metab.
- 2024 Feb;29(1):70-72.
- doi: 10.6065/apem.2346006.003
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- Association of Obesity or Overweight with Bone Health in Childhood and Adolescence: Another Health Risk Never to Be Underestimated
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Cheon CK
- KMID: 2400423
- J Korean Med Sci.
- 2017 Oct;32(10):1561-1562.
- doi: 10.3346/jkms.2017.32.10.1561
No abstract available. -
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- Adult Phenylketonuria with Leukoencephalopathy
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Kim M, Woo K, Cheon CK, Jung NY, Lee JH
- KMID: 2508650
- J Korean Neurol Assoc.
- 2020 Nov;38(4):346-348.
- doi: 10.17340/jkna.2020.4.23
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- Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease
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Jo KJ, Park SE, Cheon CK, Oh SH, Kim SH
- KMID: 2539001
- Clin Exp Pediatr.
- 2023 Feb;66(2):82-84.
- doi: 10.3345/cep.2022.00500
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- A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review
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Kim M, Lee J, Yoo S, Song JY, Yang EJ, Kim SH, Cheon CK, Yoon JY
- KMID: 2549329
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S6-S8.
- doi: 10.6065/apem.2244206.103
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- Evaluation and management of amenorrhea related to congenital sex hormonal disorders
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Yoon JY, Cheon CK
- KMID: 2460761
- Ann Pediatr Endocrinol Metab.
- 2019 Sep;24(3):149-157.
- doi: 10.6065/apem.2019.24.3.149
Primary amenorrhea is a symptom with a substantial list of underlying etiologies which presents in adolescence, although some conditions are diagnosed in childhood. Primary amenorrhea is defined as not having... -
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- A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII
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Lee YJ, Ko JM, Park SS, Cheon CK
- KMID: 2184481
- J Genet Med.
- 2010 Dec;7(2):151-155.
Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation... -
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- Understanding of type 1 diabetes mellitus: what we know and where we go
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Cheon CK
- KMID: 2433696
- Korean J Pediatr.
- 2018 Oct;61(10):307-314.
- doi: 10.3345/kjp.2018.06870
The incidence of type 1 diabetes mellitus (T1DM) in children and adolescents is increasing worldwide. Combined effects of genetic and environmental factors cause T1DM, which make it difficult to predict... -
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- A Case of Partial Trisomy 20p Resulting from Meiotic Recombination of a Maternal Pericentric Inversion
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Kang JE, Park MY, Cheon CK, Lee HD, Hwang SH, Yi J
- KMID: 1781445
- Ann Lab Med.
- 2012 Jan;32(1):91-94.
- doi: 10.3343/alm.2012.32.1.91
Here we report the cytogenetic and clinical manifestations observed in a patient with a rec(20)dup(20p)inv(20)(p11.2q13.3)mat. The patient was a full-term newborn girl with asymmetric intrauterine growth restriction and multiple congenital... -
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- A Case of Mycoplasma pneumoniae Pneumonia with a Fulminant Course in a Previously Healthy Boy
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Kim TH, Song YH, Kim MJ, Yu J, Cheon CK, Jin HS, Park SJ, Hong SJ
- KMID: 2314947
- Pediatr Allergy Respir Dis.
- 2009 Jun;19(2):191-198.
Mycoplasma pneumoniae is a common cause of community-acquired respiratory infection in children. Through uncertain pathologic mechanisms, which most probably involve immunologically cell-mediated tissue damage, it causes life-threatening disease on rare... -
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- 14q32.33 Deletion Identified by array-CGH in a 5-year old-girl with Seizure
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Cheon CK, Park SJ, Choi OH
- KMID: 1851093
- J Genet Med.
- 2011 Jun;8(1):62-66.
- doi: 10.5734/JGM.2011.8.1.62
Deletions of 14q including band 14q32.33 are uncommon. Patients with terminal deletions of chromosome 14 usually share a number of clinical features. By molecular techniques (array comparative genomic hybridization (CGH)... -
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- The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea
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Yoo S, Yoon JY, Keum C, Cheon CK
- KMID: 2540788
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):54-60.
- doi: 10.6065/apem.2142116.058
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19... -
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- Kabuki syndrome: clinical and molecular characteristics
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Cheon CK, Ko JM
- KMID: 2284511
- Korean J Pediatr.
- 2015 Sep;58(9):317-324.
- doi: 10.3345/kjp.2015.58.9.317
Kabuki syndrome (KS) is a rare syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies,... -
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- A Novel Mutation of the Steroid 5-Alpha Reductase Type 2 (SRD5A2) Gene in a Korean Newborn with Ambiguous Genitalia
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Kim RH, Kim SY, Yoo HW, Kim GH, Cheon CK
- KMID: 1462872
- J Korean Soc Pediatr Endocrinol.
- 2010 Aug;15(2):133-137.
The term "disorders of sex development" (DSD) includes congenital conditions in which development of chromosomal, gonadal or anatomical sex is atypical. Steroid 5-alpha reductase type 2 deficiency (5alpha-RD2) is an... -
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- Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes
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Lee S, Yoo S, Yoon JY, Cheon CK, Kim YA
- KMID: 2540789
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):61-66.
- doi: 10.6065/apem.2142108.054
The hyperglycemic hyperosmolar state (HHS) is considered the most fatal complication of type 2 diabetes mellitus (DM). The number of case reports describing pediatric HHS has increased recently in parallel... -
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- Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome
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Cheon CK
- KMID: 2366787
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):126-135.
- doi: 10.6065/apem.2016.21.3.126
The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be... -
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- The First Korean case of combined oxidative phosphorylation deficiency-17 diagnosed by clinical and molecular investigation
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Kim YA, Kim YM, Lee YJ, Cheon CK
- KMID: 2398890
- Korean J Pediatr.
- 2017 Dec;60(12):408-412.
- doi: 10.3345/kjp.2017.60.12.408
Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a... -
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