- A case of Leigh's disease
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Joo IJ, Hwang HC, Kim SW, Hwang YS
- KMID: 1691349
- J Korean Pediatr Soc.
- 1992 Feb;35(2):234-239.
No abstract available. -
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- Serial MRI Findings in a Clinically Diagnosed Adult Onset Leigh Syndrome
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Kim SE, Kim JY, Jung JW, Kim DS, Jung EJ, Kim EK, Son SH, Eun CK, Lee TY
- KMID: 2342809
- J Korean Neurol Assoc.
- 2000 May;18(3):341-344.
Adult onset Leigh syndrome is a very rare neurodegenerative disorder of unknown cause. We report the evolution of the lesions on serial MRIs in a 38-year-old man with clinically diagnosed... -
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- A Case of Leigh's Disease Accompanied by Limitation of Bilateral Ocular Movement
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Chang YI, Lee YC
- KMID: 2125036
- J Korean Ophthalmol Soc.
- 2001 Jun;42(6):927-931.
PURPOSE: Leigh's disease is a mainly autosomal recessive inherited progressive disorder, with onset in the first 2 years of life, and has ocular signs such as nystagmus, gaze palsy, nuclear... -
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- Two Cases of Leigh Disease in Siblings
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Kim SJ, Kim JE, Hwang HW, Mok JS, Lee DS, Kim DK, Choi SM, Kim WT
- KMID: 1606289
- J Korean Pediatr Soc.
- 2001 Jun;44(6):718-722.
Leigh disease is a familial and degenerative disorder characterized by focal, bilateral, and usually symmetric lesions of the both gray and white matter in the brain and the spinal cord.... -
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- Ocular manifestations in Leigh syndrome
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Kim KR, Byeon SH, Lee YM, Kang HC, Lee JS, Kim HD
- KMID: 2281360
- Korean J Pediatr.
- 2010 Feb;53(2):163-166.
- doi: 10.3345/kjp.2010.53.2.163
PURPOSE: Leigh syndrome is a typical type of mitochondrial disease. This study was conducted to analyze the types of ophthalmologic symptoms and results of funduscopy conducted in the ophthalmologic examination... -
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- Two Cases of Leigh Disease
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Kim SH, Park SE, Lee JS, Nam SO, Lim YT
- KMID: 2207965
- J Korean Pediatr Soc.
- 1998 Mar;41(3):405-409.
Leigh Disease, or subacute necrotizing encephalopathy (SNE), is a degenerative disorder characterized by lesions of the gray and white matter in the bran and spinal cord. The pathogenesis was known... -
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- Leigh Syndrome : Two cases report
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Lee ZI, Park HW, Kim CH, Lee YB
- KMID: 2178485
- J Korean Acad Rehabil Med.
- 2006 Aug;30(4):406-408.
Leigh syndrome is a subacute necrotizing encephalomyelopathy of infancy or early childhood. The clinical presentation can be highly variable. The classical presentations are central hypotonia, developmental regression or arrest, ataxia,... -
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- A Case of Leigh Syndrome with Typical MRI and MRS Findings
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Kang JW, Kim JC, Cho PZ, Cho JH, Kim SM, Sunwoo IN
- KMID: 2137952
- J Korean Neurol Assoc.
- 2004 Oct;22(5):545-547.
Leigh syndrome (LS) is a genetically and clinically heterogeneous disorder caused by metabolic defects affecting lactate/pyruvate metabolism. The consequence of the metabolic defects are decreased amounts of APT and basic... -
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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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- A case of Leigh's disease with initial manifestation of dystonia
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Chung CW, Hwang SH, Choi YC, Sohn YH, Kim JS, Lee BC, Chi JG
- KMID: 1107346
- Yonsei Med J.
- 1990 Sep;31(3):274-279.
- doi: 10.3349/ymj.1990.31.3.274
A case of Leigh's disease (subacute necrotizing encephalomyelopathy) is reported with such noteworthy features as early onset, dystonia, paraparesis the presence of low attenuation areas in both basal ganglias on... -
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- A Familial Case of Leigh Disease
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Kim JH, Kim IJ, Kim IS, Yoon WS, Kim EY, Kim SH, Woo YJ
- KMID: 2329218
- J Korean Child Neurol Soc.
- 1997 Oct;5(1):147-152.
In two female siblings, growth and developmental retardation, poor sucking, anorexia, floppiness and respiratory difficulty developed around 2 and 4 monthes of age in each, and the respiratory symptoms rapidly... -
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- Leigh Syndrome: Serial MRI Findings
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Kwon JS, Choi CG, Ko TS, Yoon CH, Kim DE
- KMID: 2201417
- J Korean Radiol Soc.
- 1998 Mar;38(3):539-545.
- doi: 10.3348/jkrs.1998.38.3.539
PURPOSE: The purpose of this study was to evaluate the effect of the temporal changes in brain lesions onserial MR images during the course of Leigh syndrome. MATERIALS AND METHODS:... -
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- Identification of causative mutations in patients with Leigh syndrome and MERRF by mitochondrial DNA-targeted next-generation sequencing
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Hong HD, Kim E, Nam SH, Yoo DH, Suh BC, Choi BO, Chung KW
- KMID: 2149854
- J Genet Med.
- 2015 Dec;12(2):109-117.
- doi: 10.5734/JGM.2015.12.2.109
PURPOSE: Mitochondrial diseases are clinically and genetically heterogeneous disorders, which make their exact diagnosis and classification difficult. The purpose of this study was to identify pathogenic mitochondrial DNA (mtDNA) mutations... -
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- Analysis of Usefulness of Biochemical Enzyme Assay and MR Spectroscopy(MRS) in Leigh Syndrome
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Choi BH, Robinson B, Kim JH, Kim HM, Choi CK, Yoo HW, Ko TS
- KMID: 2177130
- J Korean Child Neurol Soc.
- 1998 May;5(2):319-327.
PURPOSE: Leigh syndrome is a kind of mitochondrial disease with a pathological production of lactate and variable clinical manifestations. Recently biochemical assay of the mitochondrial enzyme activity and MRS are... -
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- Leigh Syndrome: Subgroup Aanalysis according to Mitochondrial DNA Mutation
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Jee NL, Her SM, Kim SH, Lee MJ, Lee CH, Lee YM
- KMID: 2435267
- J Korean Child Neurol Soc.
- 2018 Mar;26(1):7-12.
- doi: 10.26815/jkcns.2018.26.1.7
PURPOSE: Leigh syndrome (LS) is a rare, progressive neurodegenerative disorder with characteristic abnormalities in the central nervous system. Such patients present with heterogeneous clinical symptoms and genetic abnormalities; thus, prognosis... -
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- Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome
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Lee JS, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Hwang YS, Chae JH
- KMID: 2354138
- J Clin Neurol.
- 2016 Apr;12(2):181-187.
- doi: 10.3988/jcn.2016.12.2.181
BACKGROUND AND PURPOSE: Few studies have analyzed the clinical course and functional outcome in Leigh syndrome (LS). The aim of this study was to determine the clinical, radiological, biochemical, and... -
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- Leigh Syndrome: Clinical, Radiological, and Mitochondrial Mutational Study
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Kim DS, Ko TS, Yooz HW
- KMID: 2007350
- J Korean Child Neurol Soc.
- 2002 May;10(1):111-121.
PURPOSE: Leigh syndrome is a subacute neurodegenerative disorder of infancy or early childhood characterized by variable clinical manifestations and characteristic pathologic findings on brain. The characteristic radiological findings revealed bilateral... -
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- Brain MRI in children with delayed development: emphasis on white matter maturation
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Sung MS, Kim OH, Moon JL, Shinn KS, Bahk YW
- KMID: 2416566
- J Korean Radiol Soc.
- 1992 Jun;28(3):457-462.
To analyzed the progression of white matter maturation and white matter pathology, MR imaging of the brain was obtained in 38 children with delayed development. Children with developmental delay showed... -
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- Clinical and genetic characteristics of Korean patients with IARS2-related disorders
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Lee JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Choi M, Seong MW, Chae JH
- KMID: 2470098
- J Genet Med.
- 2019 Dec;16(2):55-61.
- doi: 10.5734/JGM.2019.16.2.55
PURPOSE: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first... -
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- Clinical and Laboratorial Characteristics of Korean Children with Mitochondrial Respiratory Chain Defect
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Noh BH, Lee YM, Seo JH, Hur YJ, Jung DE, Lee JS, Kim HD
- KMID: 2329572
- J Korean Child Neurol Soc.
- 2006 Nov;14(2):207-214.
PURPOSE:The study was carried out to characterized the clinical and the laboratorial features of children with mitochondrial respiratoy chain disorders in Korea. METHODS:We retrospectively analyzed the clinical and the loboratorial data... -
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