- Chromosomal Microarray: Application for Congenital Heart Diseases
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Ko JM
- KMID: 2406928
- Korean Circ J.
- 2018 Mar;48(3):233-235.
- doi: 10.4070/kcj.2018.0032
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- Retraction: 2-Bromopropane as a New Etiology of Primary Ovarian Failure
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Kim CH, Kim GS, Ko JM, Sin ES, Kim HJ, Kim YT, Cho KS, Yoon GS
- KMID: 2063553
- J Korean Endocr Soc.
- 2008 Feb;23(1):66-66.
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- Pachyonychia Congenita with a Novel Variant in the KRT16 Gene, c.348_379delinsAA
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Hur K, Ko JM, Mun JH
- KMID: 2536312
- Ann Dermatol.
- 2022 Dec;34(6):490-492.
- doi: 10.5021/ad.20.248
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- Advancing orphan drug development for rare diseases
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Ko JM
- KMID: 2556971
- Clin Exp Pediatr.
- 2024 Jul;67(7):356-357.
- doi: 10.3345/cep.2023.01109
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- Systemic venous air embolism after percutaneous lung biopsy
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Jung MK, Kim SY, Ko JM
- KMID: 2560522
- Korean J Intern Med.
- 2024 Nov;39(6):1021-1022.
- doi: 10.3904/kjim.2024.114
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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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- Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases
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Kim YJ, Ko JM, Song J, Lee KA
- KMID: 2429132
- Ann Lab Med.
- 2018 Nov;38(6):616-618.
- doi: 10.3343/alm.2018.38.6.616
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- Neonatal Treatment and Outcomes of Patients with Trisomy 18 in the Neonatal Intensive Care Unit: A Single Center Study
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Shin BS, Ko JM, Shin SH
- KMID: 2544096
- Perinatology.
- 2023 Jun;34(2):64-68.
- doi: 10.14734/PN.2023.34.2.64
Objective: Recent studies have shown that aggressive surgical intervention has extended the life span of patients with trisomy 18 syndrome. This study summarized patients with trisomy 18 syndrome in a... -
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- Novel Mutations in the CPT1A Gene Identified in the Patient Presenting Jaundice as the First Manifestation of Carnitine Palmitoyltransferase 1A Deficiency
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Choi JS, Yoo HW, Lee KJ, Ko JM, Moon JS, Ko JS
- KMID: 2160479
- Pediatr Gastroenterol Hepatol Nutr.
- 2016 Mar;19(1):76-81.
- doi: 10.5223/pghn.2016.19.1.76
Carnitine palmitoyltransferase 1A (CPT1A) is an enzyme functioning in mitochondrial fatty acid oxidation (FAO) of the liver. Patients with CPT1A deficiency have impaired mitochondrial FAO and display hypoketotic hypoglycemia and... -
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- Cholesterol side-chain cleavage enzyme deficiency caused by a novel homozygous variant in P450 sidechain cleavage enzyme gene (CYP11A1) in a 46,XX Korean girl
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Kim YJ, Cho S, Kim HY, Jung YH, Ko JM, Choi CW, Kim J
- KMID: 2544154
- J Genet Med.
- 2023 Jun;20(1):25-29.
- doi: 10.5734/JGM.2023.20.1.25
The CYP11A1 gene encodes for the cholesterol side-chain cleavage enzyme (P450scc), which initiates steroid hormone biosynthesis. Defective P450scc activity results in severe glucocorticoid and mineralocorticoid deficiencies. We describe a case... -
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- Congenital Cardiovascular Malformations in Patients with Turner Syndrome
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Lee MK, Jhang WK, Ko JM, Kim YH, Ko JK, Yoo HW, Park IS
- KMID: 1852889
- J Korean Pediatr Cardiol Soc.
- 2006 Sep;10(3):292-298.
PURPOSE: Turner syndrome is recognized to be a disorder in which cardiovascular malformations are common. The aim of our study was to identify the prevalence of cardiovascular malformations in females... -
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- Management of Osteogenesis Imperfecta: A Multidisciplinary Comprehensive Approach
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Cho TJ, Ko JM, Kim H, Shin HI, Yoo WJ, Shin CH
- KMID: 2508770
- Clin Orthop Surg.
- 2020 Dec;12(4):417-429.
- doi: 10.4055/cios20060
Osteogenesis imperfecta (OI) is characterized by recurring fractures and limb and spine deformities. With the advent of medical therapeutics and the discovery of causative genes, as well as the introduction... -
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- Living Donor Liver Transplantation for an Infant with Osteogenesis Imperfecta and Intrahepatic Cholestasis: Report of a Case
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Choi Y, Yi NJ, Ko JS, Ko JM, Jin US, Kim HS, Lee KH, Cho TJ, Suh SW, Yoo T, Lee KW, Suh KS
- KMID: 1734935
- J Korean Med Sci.
- 2014 Mar;29(3):441-444.
- doi: 10.3346/jkms.2014.29.3.441
Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI... -
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- Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood
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Kim HY, Ko JM
- KMID: 2531272
- Ann Pediatr Endocrinol Metab.
- 2022 Jun;27(2):90-97.
- doi: 10.6065/apem.2244114.057
Skeletal dysplasia is a diverse group of disorders that affect bone development and morphology. Currently, approximately 461 different genetic skeletal disorders have been identified, with over 430 causative genes. Among... -
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- A Case Report of Rubinstein-Taybi Syndrome Presenting with Extensive Keloid Formation and Review of Literature
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Kim JW, Ko JM, Lee DY, Shin JW
- KMID: 2542711
- Ann Dermatol.
- 2023 May;35(Suppl1):S19-S24.
- doi: 10.5021/ad.20.320
Rubinstein-Taybi syndrome (RSTS) is an extremely rare genetic disorder affecting multi-organ systems. A tendency to form keloid is one of the common dermatologic manifestations. We describe a 23-year-old female presented with... -
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- A Novel Homozygous LIPA Mutation in a Korean Child with Lysosomal Acid Lipase Deficiency
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Kim KY, Kim JW, Lee KJ, Park E, Kang GH, Choi YH, Kim WS, Ko JM, Moon JS, Ko JS
- KMID: 2398909
- Pediatr Gastroenterol Hepatol Nutr.
- 2017 Dec;20(4):263-267.
- doi: 10.5223/pghn.2017.20.4.263
Patients with lysosomal acid lipase (LAL) deficiency and glycogen storage disease (GSD) demonstrated hepatomegaly and dyslipidemia. In our case, a 6-year-old boy presented with hepatosplenomegaly. At 3 years of age,... -
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- Case Reports and Estimated Prevalence of Adrenal Pheochromocytoma in Patients with Neurofibromatosis Type I in Korea
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Jung JY, Ahn SJ, Yoon HY, Ko JM, Chung YS
- KMID: 2169179
- Endocrinol Metab.
- 2011 Sep;26(3):258-262.
- doi: 10.3803/EnM.2011.26.3.258
We report three patients with adrenal pheochromocytoma who were associated with type I neurofibromatosis. Two of them were asymptomatic, but one case involved hypertension. We reviewed medical records and adrenal... -
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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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- Bronchogenic Cyst in Posterior Mediastinum with Butterfly Vertebra: A Case Report
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Kim M, Park HJ, Ko JM, Yoo J
- KMID: 2464928
- J Korean Soc Radiol.
- 2019 Nov;80(6):1281-1285.
- doi: 10.3348/jksr.2019.80.6.1281
Most mediastinal cystic masses result from abnormal development of the embryo. Common developmental cysts in the posterior mediastinum are bronchogenic, neurenteric, and esophageal duplication cysts. These cystic masses appear identical... -
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- CT and Positron Emission Tomography/CT Findings of Mediastinal Extraskeletal Ewing's Sarcoma with Extensive Distant Metastasis: A Case Report
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Kim BY, Ko JM, Park HJ
- KMID: 2097979
- J Korean Soc Radiol.
- 2012 Dec;67(6):441-444.
- doi: 10.3348/jksr.2012.67.6.441
Extraskeletal Ewing's sarcoma (EES) is a rare aggressive malignant tumor, usually occurring in the chest wall of children and young adults. Although EES shows aggressive growth pattern, it seldom demonstrates... -
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