- Vascular Hyperemia and Crossed Cerebellar Diaschisis in MELAS Patient Presented as Stroke-Like Episode and Seizure
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Kim DW, Choi KH, Oh HJ, Kang M, Kim C, Choi HC, Sohn JH
- KMID: 2184752
- J Korean Neurol Assoc.
- 2013 Aug;31(3):183-185.
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the mitochondrial disorders that can present as a stroke-like episode or seizure. Although the pathophysiology of MELAS remains inconclusive,... -
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- Wolff-Parkinson-White Syndrome in a Patient With Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes Syndrome
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Lee MH, Sung YJ, Yoon JH, Kim J, Oh IY, Choi EK, Oh S
- KMID: 2225077
- Korean Circ J.
- 2011 Nov;41(11):674-676.
- doi: 10.4070/kcj.2011.41.11.674
Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome is a multisystem disorder, which is clinically characterized by encephalopathy, dementia, seizures and stroke-like episodes. Multiple organs can be affected and... -
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- A Case of Early Onset MELAS Patient with Wolff-Parkinson-White Syndrome
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Kim JA, Ahn JM, Lee YM, Kang HC, Lee JS, Kim HD
- KMID: 2329491
- J Korean Child Neurol Soc.
- 2011 Dec;19(3):266-271.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the classic mitochondrial diseases characterized by symptoms of repeated episodes of hemiparesis with mitochondrial DNA mutation. We report... -
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- Electrocardiography as an early cardiac screening test in children with mitochondrial disease
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Baik R, Chae JH, Lee YM, Kang HC, Lee JS, Kim HD
- KMID: 2042068
- Korean J Pediatr.
- 2010 May;53(5):644-647.
- doi: 10.3345/kjp.2010.53.5.644
PURPOSE: To evaluate myocardial conductivity to understand cardiac involvement in patients with mitochondrial disease. METHODS: We performed retrospective study on fifty-seven nonspecific mitochondrial encephalopathy patients with no clinical cardiac manifestations. The... -
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- A Case of Mitochondrial Neurogastrointestinal Encephalomyopathy
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Park KK, Kim JY, Park HC, Lee HW, Sohn YK, Jung BW, Suh CK
- KMID: 2342892
- J Korean Neurol Assoc.
- 2001 May;19(3):309-312.
Mitochondrial neurogastrointestinal encephalomyopahty (MNGIE) is a rare disorder and is clinically characterized by ophthalmoparesis, peripheral neuropathy, leukoencephalopathy, gastrointestinal symptoms with intestinal dysmotility, and histologically abnormal mitochondria in muscle. A 32-year-old... -
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- A Two Cases of MELAS in Siblings
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Yeon YY, Choi BJ, Kim YH, Kim JW, Park SS, Ji JG, Whang KT
- KMID: 2329217
- J Korean Child Neurol Soc.
- 1997 Oct;5(1):138-146.
MELAS is the condition associated with mutant mtDNA that most closely mimics thrombotic cerebrovascular disease. It is characterized by mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. These children develop short... -
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- A case of MELAS syndrome
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Hong SJ, Shim JY, Park YS, Moon HN, Hong CY, Cho JH
- KMID: 2104053
- J Korean Pediatr Soc.
- 1993 Mar;36(3):394-402.
MELAS syndrome is a rare but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. We... -
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- Late-onset MELAS with Chronic Kidney Disease
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Choo IY, Lee EJ, Min YG, Kwon HM
- KMID: 2405987
- J Korean Neurol Assoc.
- 2017 Nov;35(4):237-239.
- doi: 10.17340/jkna.2017.4.12
Mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS) is a multisystem mitochondrial disorder that typically presents in childhood. We report a case of MELAS syndrome diagnosed in a 45-year-old... -
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- A Case of MELAS Syndrome Diagnosed in a Woman in Her 50s
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Hwang Y, Jeong JH, Kim YS, Cho J, Lee WJ, Park JY, Lee KU
- KMID: 1966887
- Korean J Med.
- 2011 Feb;80(2):225-230.
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, abbreviated to MELAS, syndrome is a common mitochondrial disease that can present with a wide range of clinical symptoms, including seizures, stroke-like episodes,... -
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- MELAS syndrome in a child: CT and MR findings
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Choi HY, Hong SJ, Cho JH, Suh DC, Hong CY
- KMID: 2348879
- J Korean Radiol Soc.
- 1993 Feb;29(1):160-164.
MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) is one of the mitochondrial encephalomyopathy, A rare disease caused by a disturbance of the mitochondrial chain of respiration. MELAS is confirmed... -
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- Fumarase Deficiency with Spastic Quadriplegia: A case report
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Jung KH, Park JH, Ko YJ, Lee SE
- KMID: 2323513
- J Korean Acad Rehabil Med.
- 2000 Aug;24(4):793-798.
Fumarase catalyzes the conversion of fumarate to malate in the Krebs cycle. Fumarase deficiency is a rare inborn error of metabolism and is inherited in an autosomal recessive manner. It... -
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- The Usefulness of Muscle Biopsy in Initial Diagnostic Evaluation of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes
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Baek MS, Kim SH, Lee YM
- KMID: 2428283
- Yonsei Med J.
- 2019 Jan;60(1):98-105.
- doi: 10.3349/ymj.2019.60.1.98
PURPOSE: The disease entity mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is characterized by an early onset of stroke-like episodes. MELAS is the most dominant subtype of mitochondrial disease.... -
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- Molecular Genetic Diagnosis in Korean Patients with Myoclonic Epilepsy with Ragged Red Fiber (MERRF) Syndrome
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Ko TS, Lee SA, Choe G, Yoo HW
- KMID: 1561831
- J Korean Pediatr Soc.
- 1998 Jul;41(7):941-952.
PURPOSE: Myoclonic epilepsy with ragged red fiber (MERRF) syndrome is a disease of the mitochondrial encephalomyopathies, characterized by progressive myoclonus (action), epilepsy, cerebellar ataxia, intention tremor, muscle weakness, progressive dementia,... -
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- Tc-99m ECD Brain SPECT in MELAS Syndrome and Mitochondrial Myopathy: Comparison with MR findings
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Park SJ, Ryu YH, Jeon TJ, Kim JK, Nam JE, Yoon PH, Yoon CS, Lee JD
- KMID: 1566915
- Korean J Nucl Med.
- 1998 Dec;32(6):490-496.
PURPOSE: We evaluated brain perfusion SPECT findings of MELAS syndrome and mitochondrial myopathy in correlation with MR imaging in search of specific imaging features. MATERIALS AND METHODS: Subjects were five... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008)
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Kim SH, Ki CS, Jeon BR, Lee ST, Yoo EH, Kim JW, Park SS, Kim JS, Lee YK, Kong SY, Ki SJ, Han SH, Seo EJ
- KMID: 2200582
- J Lab Med Qual Assur.
- 2009 Jun;31(1):161-181.
The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic... -
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- Initial Experiences with Proton MR Spectroscopy in Treatment Monitoring of Mitochondrial Encephalopathy
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Lee SK, Kim J, Kim HD, Lee JS, Lee YM
- KMID: 1071417
- Yonsei Med J.
- 2010 Sep;51(5):672-675.
- doi: 10.3349/ymj.2010.51.5.672
PURPOSE: Mitochondrial encephalopathy (ME) is a rare disorder of energy metabolism. The disease course can roughly be evaluated by clinical findings. The purpose of this study was to evaluate metabolic... -
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- A Case of MELAS(Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke-like Episodes) Syndrome Manifested by Diabetic Ketoacidosis
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Jung SH, Kim EJ, Im SH, Ju K, Choi KH, Ko SH, Ahn YB, Song KH, Son HY, Park SK, Jun JS
- KMID: 1575486
- J Korean Diabetes Assoc.
- 2004 Jun;28(3):231-237.
MELAS(mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes) syndrome is a rare cause of mitochondrial encephalomyopathy, with variable clinical features, such as encephalomyopathy, lactic acidosis, stroke, diabetes, short stature, sensorineural hearing loss... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2009)
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Kim SH, Ki CS, Kim S, Kwon MJ, Kim JW, Park SS, Kim JS, Lee YK, Kong SY, Ki SJ, Han SH, Seo EJ, CHo HC, Kim EJ, Kim PW
- KMID: 2200555
- J Lab Med Qual Assur.
- 2010 Jun;32(1):147-170.
BACKGROUND: The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommittee of KSQACL performed two trials for... -
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- Leigh's disease involving multiple organs
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Jung KC, Myong NH, Chi JG, Choi HR, Lee HS, Ahn YM
- KMID: 1421979
- J Korean Med Sci.
- 1993 Jun;8(3):214-220.
- doi: 10.3346/jkms.1993.8.3.214
Leigh's disease is a rare progressive neurological disorder that is characterized light microscopically by focal spongy necrosis in the brain and electron microscopically by mitochondriopathy. We report an autopsy case... -
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- Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2002)
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Cho HC, Kim SH, Park SS, Kong SY, Kim HJ, Choi HS, Kim JS, Kim EC, Park SJ, Park JW, Seo SP, Song KS, Lee YK, Joo SI, Chi HS
- KMID: 1820200
- J Lab Med Qual Assur.
- 2003 Jun;25(1):157-179.
The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in... -
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