- Two Cases of Pelizaeus-Merzbacher Disease
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Kang HS, Oh SW, Park YW, Lee CG, Kim SW, Lee GJ
- KMID: 2207613
- J Korean Pediatr Soc.
- 2000 Apr;43(4):561-566.
Pelizaeus-Merzbacher disease (PMD) is a rare sudanophilic leukodystrophy with a reduced number of mature oligodendrocytes as well as diffuse central nervous system hypomyelination (dysmyelination) due to abnormal synthesis of proteolipid... -
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- General anesthesia for an adolescent with Pelizaeus-Merzbacher disease: A case report
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Kim H, Lim C
- KMID: 2434198
- Anesth Pain Med.
- 2019 Jan;14(1):44-47.
- doi: 10.17085/apm.2019.14.1.44
Pelizaeus-Merzbacher disease (PMD) is a progressive and degenerative chromosomal disorder of the central nervous system caused by defective myelin production. Few case reports have been issued on the anesthetic management... -
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- Pelizaeus-Merzbacher Disease: A case report
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Moon JL, Kang SY, Lee SE, Yoo KB
- KMID: 2323735
- J Korean Acad Rehabil Med.
- 2002 Feb;26(1):108-112.
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder characterized by dysmyelination of the central nervous system (CNS) caused by mutations in the proteolipid protein (PLP) gene. PLP is located at... -
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- Dental Treatment of a Patient with Pelizaeus-Merzbacher Disease under Outpatient General Anesthesia: A Case Report
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Kim TK, Seo KS, Shin CU, Kim HJ, Yum KW
- KMID: 2345136
- J Korean Dent Soc Anesthesiol.
- 2007 Jun;7(1):18-21.
- doi: 10.17245/jkdsa.2007.7.1.18
Pelizaeus-Merzbacher disease (PMD) can be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein gene on chromosome Xq22. PMD is one of a... -
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- Magnetic resonance imaging and spectroscopic analysis in 5 cases of Pelizaeus-Merzbacher disease: metabolic abnormalities as diagnostic tools
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Lee E, Yum MS, Choi HW, Yoo HW, You SJ, Lee EH, Ko TS
- KMID: 2140717
- Korean J Pediatr.
- 2012 Oct;55(10):397-402.
- doi: 10.3345/kjp.2012.55.10.397
Pelizaeus-Merzbacher disease (PMD) is a rare, X-linked recessive disorder characterized by dysmyelination in the central nervous system. PMD results from deletion, mutation, or duplication of the proteolipid protein gene (PLP1)... -
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- Identification of Proteolipid Protein 1 Gene Duplication by Multiplex Ligation-Dependent Probe Amplification: First Report of Genetically Confirmed Family of Pelizaeus-Merzbacher Disease in Korea
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Kim SJ, Yoon JS, Baek HJ, Suh SI, Bae SY, Cho HJ, Ki CS
- KMID: 1713470
- J Korean Med Sci.
- 2008 Apr;23(2):328-331.
- doi: 10.3346/jkms.2008.23.2.328
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with a prototype of a dysmyelinating leukodystrophy that is caused by a mutation in the proteolipid protein 1 (PLP1) gene on... -
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- Pelizaeus-Merzbacher Disease: Two Cases in a Family Diagnosed by the Clinical Features and Magnetic Resonance Imaging
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Kim SM, Lee BC, Kwon KH, Kim SY, Yoo KH, Jung S, Jung JW
- KMID: 2065983
- J Korean Neurol Assoc.
- 1995 Mar;13(1):115-122.
Pelizaeus-Merzbacher disease(PMD) is very rare x-liked recessive leukodystrophy, rather dysmyelinating d due to defect of biosynthesis of proteolipid protein, a component of myelin. Its usual clinical features are stridor, pendular... -
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- Clinical Manifestations of Leukodystrophies: A Single Center Study
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Kang SY, Yum MS, Choi HW, Lee EH, Ko TS, Yoo HW
- KMID: 1442111
- J Korean Child Neurol Soc.
- 2011 Aug;19(2):115-123.
PURPOSE: Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical... -
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