- First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
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Song A, Im M, Kim MS, Noh ES, Kim C, Jang J, Lee SM, Ki CS, Cho SY, Jin DK
- KMID: 2540790
- Ann Pediatr Endocrinol Metab.
- 2023 Mar;28(1):67-72.
- doi: 10.6065/apem.2142134.067
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive... -
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- Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
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Im M, Song A, Kim J, Kim MS, Lee SM, Kim MJ, Cho SY, Jin DK
- KMID: 2533343
- Ann Pediatr Endocrinol Metab.
- 2022 Sep;27(3):229-235.
- doi: 10.6065/apem.2142042.021
Wilson disease (WD) is a relatively common genetic hepatic disease in children and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive... -
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- Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome
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Kim MS, Kim J, Cho J, Cho SY, Jin DK
- KMID: 2531280
- Ann Pediatr Endocrinol Metab.
- 2022 Jun;27(2):148-152.
- doi: 10.6065/apem.2142022.011
Prader-Willi syndrome (PWS) is characterized by hypotonia, distinctive facial features, hyperphagia, obesity, short stature, hypogonadism, intellectual disability, and behavior problems. Uncontrolled hyperphagia can lead to dangerous food-seeking behavior and with... -
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- Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis
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Park H, Kim MS, Kim J, Lee SM, Cho SY, Yoo EG, Jin DK
- KMID: 2528201
- Ann Pediatr Endocrinol Metab.
- 2022 Mar;27(1):73-77.
- doi: 10.6065/apem.2040250.125
Diabetic ketoacidosis (DKA) is a medically fatal condition in poorly controlled hyperglycemia or newly diagnosed diabetes mellitus. Severe hypertriglyceridemia (HTG) is an uncommon complication of DKA and can be associated... -
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- Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome
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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
- KMID: 2536687
- Epidemiol Health.
- 2022;44(1):e2022014.
- doi: 10.4178/epih.e2022014
OBJECTIVES: Hyperphagia is a highly stressful, life-threatening feature of Prader-Willi syndrome (PWS). It is important to assess this complex behavior accurately over time. This study aimed to develop and validate... -
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- Prader-Willi syndrome: an update on obesity and endocrine problems
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Kim SJ, Cho SY, Jin DK
- KMID: 2523828
- Ann Pediatr Endocrinol Metab.
- 2021 Dec;26(4):227-236.
- doi: 10.6065/apem.2142164.082
Prader-Willi syndrome (PWS) is a rare complex genetic disorder that results from a lack of expression of the paternally inherited chromosome 15q11-q13. PWS is characterized by hypotonia and feeding difficulty... -
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- Autosomal Recessive Malignant Infantile Osteopetrosis Associated with a TCIRG1 Mutation: A Case Report of a Neonate Presenting with Hypocalcemia in South Korea
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Oh YK, Choi KE, Shin YJ, Kim ER, Kim JY, Kim MS, Cho SY, Jin DK
- KMID: 2519776
- Neonatal Med.
- 2021 Aug;28(3):133-138.
- doi: 10.5385/nm.2021.28.3.133
Osteopetrosis refers to a group of genetic skeletal disorders characterized by osteosclerosis and fragile bones. Osteopetrosis can be classified into autosomal dominant, autosomal recessive, or X-linked forms, which might differ... -
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- GLB1-related disorders: GM1 gangliosidosis and Morquio B disease
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Cho SY, Jin DK
- KMID: 2517207
- J Genet Med.
- 2021 Jun;18(1):16-23.
- doi: 10.5734/JGM.2021.18.1.16
GLB1-related disorders comprise two phenotypically unique disorders: GM1 gangliosidosis and Morquio B disease. These autosomal recessive disorders are caused by b-galactosidase deficiency. A hallmark of GM1 gangliosidosis is central nervous... -
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- Efficacy and safety of nebivolol in Korean patients with hypertension by age and sex: a subanalysis from the BENEFIT-KOREA study
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Cho KI, Jeon DW, Ahn HS, Jin DK, Lee HS, Lee JY, Lim HS, Manolis AJ, Rha SW, Park SW
- KMID: 2522313
- Clin Hypertens.
- 2021;27(1):9.
- doi: 10.1186/s40885-021-00165-3
Background BENEFIT-KOREA (BEnefits after 24 weeks of NEbivolol administration For essential hypertensIon patients wiTh various comorbidities and treatment environments in Korea) study, an observational study in South Korea, demonstrated the efficacy and... -
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- Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
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Bae H, Kim MS, Park H, Jang JH, Choi JM, Lee SM, Cho SY, Jin DK
- KMID: 2501037
- Ann Pediatr Endocrinol Metab.
- 2020 Mar;25(1):46-51.
- doi: 10.6065/apem.2020.25.1.46
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute... -
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- 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
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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
- KMID: 2452034
- Korean J Pediatr.
- 2019 Jun;62(6):224-234.
- doi: 10.3345/kjp.2018.06968
PURPOSE: Pompe disease (PD) is an autosomal recessive disorder caused by a deficiency of acid alpha-glucosidase resulting from pathogenic GAA variants. This study describes the clinical features, genotypes, changes before... -
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- A case of de novo 18p deletion syndrome with panhypopituitarism
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Yang A, Kim J, Cho SY, Lee JE, Kim HJ, Jin DK
- KMID: 2447378
- Ann Pediatr Endocrinol Metab.
- 2019 Mar;24(1):60-63.
- doi: 10.6065/apem.2019.24.1.60
Deletion on the short arm of chromosome 18 is a rare disorder characterized by intellectual disability, growth retardation, and craniofacial malformations (such as prominent ears, microcephaly, ptosis, and a round... -
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- A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets
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Yang M, Kim J, Yang A, Jang J, Jeon TY, Cho SY, Jin DK
- KMID: 2432276
- Ann Pediatr Endocrinol Metab.
- 2018 Dec;23(4):229-234.
- doi: 10.6065/apem.2018.23.4.229
X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a 26-year-old man with X-linked hypophosphatemic rickets who showed decreased serum phosphate... -
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- De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism
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Moon JE, Lee SJ, Park SH, Kim J, Jin DK, Ko CW
- KMID: 2417769
- Ann Pediatr Endocrinol Metab.
- 2018 Jun;23(2):107-111.
- doi: 10.6065/apem.2018.23.2.107
Autosomal-dominant hypocalcemia with hypercalciuria (ADHH) is a genetic disease characterized by hypoparathyroidism with hypercalciuria. Most patients with ADHH have calcium-sensing receptor (CaSR) gene mutations. The CaSR gene controls parathyroid secretions,... -
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- Etiological trends in male central precocious puberty
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Lee J, Kim J, Yang A, Cho SY, Jin DK
- KMID: 2417763
- Ann Pediatr Endocrinol Metab.
- 2018 Jun;23(2):75-80.
- doi: 10.6065/apem.2018.23.2.75
PURPOSE: In the present study, the etiological trends in male central precocious puberty (CPP) were examined, and annual distribution was evaluated. METHODS: Seventy-one male CPP subjects who started puberty before 9... -
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- An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
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Kim J, Cho SY, Yang A, Jang JH, Choi Y, Lee JE, Jin DK
- KMID: 2396141
- Ann Pediatr Endocrinol Metab.
- 2017 Sep;22(3):203-207.
- doi: 10.6065/apem.2017.22.3.203
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals... -
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- 2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
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Cho EK, Kim J, Yang A, Cho SY, Jin DK
- KMID: 2383909
- Ann Pediatr Endocrinol Metab.
- 2017 Jun;22(2):129-132.
- doi: 10.6065/apem.2017.22.2.129
Chromosome 2q37 deletion syndrome is a rare chromosomal disorder characterized by mild to moderate developmental delay, brachydactyly of the third to fifth digits or toes, short stature, obesity, hypotonia, a... -
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- Delayed Diagnosis of Atypical Mowat-Wilson Syndrome
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Jang MA, Jung YJ, Jin DK, Lee J, Cho EH, Jang JH, Ki CS
- KMID: 2160084
- Lab Med Online.
- 2016 Apr;6(2):57-59.
- doi: 10.3343/lmo.2016.6.2.57
No abstract available. -
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- Estrogen-mediated Height Control in Girls with Marfan Syndrome
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Lee DY, Hyun HS, Huh R, Jin DK, Kim DK, Yoon BK, Choi D
- KMID: 2360053
- J Korean Med Sci.
- 2016 Feb;31(2):275-279.
- doi: 10.3346/jkms.2016.31.2.275
This study evaluated the efficacy of a stepwise regimen of estradiol valerate for height control in girls with Marfan syndrome. Eight girls with Marfan syndrome who had completed estrogen treatment... -
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- Guidelines for genetic skeletal dysplasias for pediatricians
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Cho SY, Jin DK
- KMID: 2354694
- Ann Pediatr Endocrinol Metab.
- 2015 Dec;20(4):187-191.
- doi: 10.6065/apem.2015.20.4.187
Skeletal dysplasia (SD) is a kind of heterogeneous genetic disorder characterized by abnormal growth, development, differentiation, and maintenance of the bone and cartilage. The patients with SD most likely to... -
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