- Using low-dose octreotide with diazoxide-resistant congenital hyperinsulinism resulting from compound heterozygous mutations in the ABCC8 gene
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Park K, Lim KI, Sohn YB, Lee HS, Hwang JS
- KMID: 2549335
- Ann Pediatr Endocrinol Metab.
- 2023 Dec;28(Suppl 1):S23-S24.
- doi: 10.6065/apem.2244068.034
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- Erratum: A Phase 2 Multi-center, Open-label, Switch-over Trial to Evaluate the Safety and Efficacy of Abcertin(R) in Patients with Type 1 Gaucher Disease
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Choi JH, Lee BH, Ko JM, Sohn YB, Lee JS, Kim GH, Heo SH, Park JY, Kim YM, Kim JH, Yoo HW
- KMID: 2344167
- J Korean Med Sci.
- 2015 Sep;30(9):1373-1373.
- doi: 10.3346/jkms.2015.30.9.1373
We would like to correct the phrases. -
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- Erratum: Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA
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Lee NH, Cho SY, Maeng SH, Jeon TY, Sohn YB, Kim SJ, Park HD, Jin DK
- KMID: 2284287
- Korean J Pediatr.
- 2013 Mar;56(3):143-143.
- doi: 10.3345/kjp.2013.56.3.143
This erratum is being published to correct of page 435 and Table 4. -
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- Newborn Periventricular Nodular Heterotopia with Persistent Feeding Cyanosis and Apneic Spell: A Case Report
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Hong SJ, Park JE, Sohn YB, Suh YA, Lee JH, Park MS
- KMID: 2536661
- Neonatal Med.
- 2022 Nov;29(4):149-153.
- doi: 10.5385/nm.2022.29.4.149
Periventricular nodular heterotopia (PNH) is a neuronal migration disorder that occurs during early brain development. Patients with PNH may be asymptomatic and have normal intelligence; however, PNH is also known... -
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- Updates on Paget’s Disease of Bone
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Choi YJ, Sohn YB, Chung YS
- KMID: 2534625
- Endocrinol Metab.
- 2022 Oct;37(5):732-743.
- doi: 10.3803/EnM.2022.1575
Paget’s disease of the bone is a prevalent bone disease characterized by disorganized bone remodeling; however, it is comparatively uncommon in East Asian countries, including China, Japan, and Korea. The... -
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- The genetics of obesity: A narrative review
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Sohn YB
- KMID: 2538087
- Precis Future Med.
- 2022 Dec;6(4):226-232.
- doi: 10.23838/pfm.2022.00156
Monogenic obesity is a rare, early-onset, and severe form of obesity that has a Mendelian inheritance pattern, high penetrance, and large genetic effect. In contrast, common polygenic obesity is more... -
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- A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
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Park S, Sohn YB, Chung IS, Hong JH, Jung EJ, Jeong SY, Jin HS
- KMID: 1737963
- J Genet Med.
- 2014 Jun;11(1):40-42.
- doi: 10.5734/JGM.2014.11.1.40
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of... -
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- A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman
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Lee SK, Lee MJ, Lee HJ, Kim BK, Sohn YB, Chung YS
- KMID: 2286315
- J Bone Metab.
- 2013 May;20(1):57-60.
- doi: 10.11005/jbm.2013.20.1.57
CATCH 22 Syndrome is caused by chromosome 22q11.2 microdeletion, characterized by developmental abnormalities of the third and fourth pharyngeal pouches. It has a prevalence estimated at 1:3,000-1:9,000. Most deletions occurs... -
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- Genetic obesity: an update with emerging therapeutic approaches
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Sohn YB
- KMID: 2533335
- Ann Pediatr Endocrinol Metab.
- 2022 Sep;27(3):169-175.
- doi: 10.6065/apem.2244188.094
Based on the genetic contribution, childhood obesity can be classified into 3 groups: common polygenic obesity, syndromic obesity, and monogenic obesity. More genetic causes of obesity are being identified along... -
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- An Unusual Presentation of Diabetic Ketoacidosis in Familial Hajdu-Cheney Syndrome: A Case Report
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Lee GH, An SY, Sohn YB, Jeong SY, Chung YS
- KMID: 1777670
- J Korean Med Sci.
- 2013 Nov;28(11):1682-1686.
- doi: 10.3346/jkms.2013.28.11.1682
A 21-year-old man with diabetic ketoacidosis (DKA) displayed short and clubbed fingers and marked eyebrow, which are typical of Hajdu-Cheney Syndrome (HCS). Laboratory findings confirmed type 1 diabetes mellitus (DM).... -
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- Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases
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Kim BK, Sohn YB, Park SJ, Yim SY, Chung YS
- KMID: 1811009
- J Genet Med.
- 2013 Dec;10(2):120-123.
- doi: 10.5734/JGM.2013.10.2.120
This report describes three cases of 22q11.2 deletion syndrome (22q11.2DS) diagnosed by array comparative genomic hybridization with final adult height and bone phenotype. The cases involved a 57-year-old woman with... -
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- A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing
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Suh Ya, Sohn YB, Park MS, Lee JH
- KMID: 2516491
- Neonatal Med.
- 2021 May;28(2):89-93.
- doi: 10.5385/nm.2021.28.2.89
Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset. Neonatal nemaline myopathy... -
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- Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis
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Choi S, Sohn YB, Ji S, Song S, Shin J, Kim S
- KMID: 2505650
- J Korean Acad Pediatr Dent.
- 2020 Aug;47(3):344-351.
- doi: 10.5933/JKAPD.2020.47.3.344
Amelogenesis imperfecta (AI) occurs either in isolation or in association with other dental abnormalities and systemic disorder. A rare syndrome associating AI with nephrocalcinosis was named as Enamel Renal Syndrome... -
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- A Case of CATCH22 Syndrome with Normal Parathyroid Function
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Lee MJ, An SY, Bae CB, Sohn YB, Chung YS
- KMID: 1497656
- Endocrinol Metab.
- 2012 Jun;27(2):151-154.
- doi: 10.3803/EnM.2012.27.2.151
CATCH 22 is a medical acronym for cardiac defects, abnormal faces, thymic hypoplasia, cleft palate, and hypocalcemia, and a variable deletion on chromosome 22. It includes DiGeorge syndrome, conotruncal anomaly... -
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- Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH
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Lee CG, Yun JN, Park SJ, Sohn YB
- KMID: 2055580
- J Genet Med.
- 2013 Jun;10(1):52-56.
- doi: 10.5734/JGM.2013.10.1.52
Mosaic trisomy 14 syndrome is a well-known but unusual chromosomal abnormality with a distinct and recognizable phenotype. Array comparative genomic hybridization (CGH) analysis has recently become a widely used method... -
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- Oral Proton Pump Inhibitor for Treatment of Congenital Chloride Diarrhea
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Jo HC, Yoon JS, Jang JY, Sohn YB, Lee JH, Cheong HI, Park MS
- KMID: 2312992
- Neonatal Med.
- 2016 Feb;23(1):59-63.
- doi: 10.5385/nm.2016.23.1.59
Congenital chloride diarrhea (CCD) is a rare autosomal recessive disease, which is characterized by electrolyte absorption defect due to impaired function of the Cl-/HCO3 - exchanger in the ileum and the... -
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- The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation
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Jang JA, Sohn YB, Lee JH, Park MS
- KMID: 2517212
- J Genet Med.
- 2021 Jun;18(1):48-54.
- doi: 10.5734/JGM.2021.18.1.48
Genetic imbalances are a major cause of congenital and developmental abnormalities. We report the first case of a 3p26 microdeletion and 5q35.2q35.3 microduplication in a newborn with multiple congenital anomalies... -
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- One-year experience of oral substrate reduction therapy in three patients with Gaucher disease type I
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Sohn YB, Kim Y, Moon JE
- KMID: 2509985
- J Genet Med.
- 2020 Dec;17(2):62-67.
- doi: 10.5734/JGM.2020.17.2.62
Purpose: Eliglustat is an oral substrate reduction therapy (SRT) approved for adults with Gaucher disease type I (GD1) who are extensive, intermediate, or poor CYP2D6 metabolizers. Here we report one-year... -
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- The Effect of Growth Hormone and the Factors Influencing Growth in Pediatric Chronic Peritoneal Dialysis Patients
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Kim SJ, Park SW, Sohn YB, Jin DK, Paik KH
- KMID: 2322084
- J Korean Soc Pediatr Nephrol.
- 2008 Apr;12(1):38-46.
PURPOSE: Growth failure is a common problem in chronic renal failure(CRF). We studied the effect of growth hormone(GH) treatment and the factors influencing growth on chronic peritoneal dialysis patients. METHODS: Seventeen... -
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- Osteogenesis Imperfecta Type VI with Severe Bony Deformities Caused by Novel Compound Heterozygous Mutations in SERPINF1
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Cho SY, Ki CS, Sohn YB, Kim SJ, Maeng SH, Jin DK
- KMID: 1777512
- J Korean Med Sci.
- 2013 Jul;28(7):1107-1110.
- doi: 10.3346/jkms.2013.28.7.1107
Osteogenesis imperfecta (OI) comprises a heterogeneous group of disorders characterized by bone fragility, frequent fractures, and low bone mass. Dominantly inherited COL1A1 or COL1A2 mutations appear to be causative in... -
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