- An Anesthetic Experience in a Patient with Menkes Disease: A case report
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Shinn HK, Lee HS, Cha YD, Lee JH, Kim HZ, Song JH
- KMID: 1937387
- Korean J Anesthesiol.
- 2007 Nov;53(5):672-675.
- doi: 10.4097/kjae.2007.53.5.672
Menkes disease, so-called kinky hair disease or steely hair disease, is a rare X-linked recessive disorder of intracellular copper transport protein ATP7A defect, due to mutation of ATP7A gene, resulting... -
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- Clinical Findings of Menkes Disease and the Treatment of Epilepsy
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Choi MH, Kim S, Bae SW, Son JS, Lee R
- KMID: 2435246
- J Korean Child Neurol Soc.
- 2018 Jun;26(2):109-112.
- doi: 10.26815/jkcns.2018.26.2.109
Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair,... -
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- Hair Abnormality and Cutis Laxa in Menkes Disease
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Lee HM, Kim JK, Won CH, Chang SE, Lee MW, Choi JH, Moon KC, Lee BH
- KMID: 2088499
- Korean J Dermatol.
- 2012 Oct;50(10):891-895.
Menkes disease, so called kinky-hair syndrome, is a rare fatal X-linked recessive disorder, which is caused by a mutation in the ATP7A gene encoding the copper transporting ATPase. Dysfunction of... -
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- A case of Menkes disease caused by novel mutation in the ATP7A gene with infantile hypertrophic pyloric stenosis
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Park JS, Lee JM, Ki CS, Kim YE, Rhie S, Chae KY
- KMID: 2176758
- J Korean Child Neurol Soc.
- 2014 Sep;22(3):186-190.
Menkes disease is caused by mutations in the ATP7A gene that lead to intracellular copper transport defects and characterized by brownish twisted (kinky) hair accompanied by growth retardation and intellectual... -
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- Kinky hair syndrome: a case report
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Yeon KM, Kim IO, Chi JG, Moon HR
- KMID: 2462262
- J Korean Radiol Soc.
- 1986 Dec;22(6):1077-1082.
- doi: 10.3348/jkrs.1986.22.6.1077
Kinky hair syndrome is a sex-linked recessively inherited copper metabolic disorder with severeneurodegenerative change and infant death. In 1962, Menkes and associates described five boys of a relatedpedigree with severe... -
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- 3-year Follow-up of a Menkes Disease Patient
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You JH, Paek H, Jung K, Sun GK, Yoo HW, Kim KS, Kim YW, Kim EY
- KMID: 1528187
- J Korean Child Neurol Soc.
- 2007 May;15(1):94-101.
Menkes disease is a rare fatal X-linked recessive disorder characterized by a generalized defect in intracelluar copper transport. The clinical features which arise from copper deficiency include progressive neurologic deterioration,... -
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- A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene
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Kang SA, Jeong SW, Lee EH
- KMID: 2403730
- J Korean Child Neurol Soc.
- 2017 Dec;25(4):261-265.
- doi: 10.26815/jkcns.2017.25.4.261
Menkes disease is a rare, neurodegenerative, copper metabolism disorder characterized by mutations in ATP7A gene. Clinical symptoms include epilepsy, growth delay, reduced muscle strength, skin hyperextension, hair deformation and urologic... -
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- A Case of Menkes Syndrome
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Jung DS, Jo JH, Oh CK, Jang HS, Kwon KS, Nam SO
- KMID: 2303067
- Korean J Dermatol.
- 2002 Nov;40(11):1414-1418.
Menkes syndrome is a rare fatal neurodegenerative disease with X-linked recessive inheritance. The clinical characteristic features are progressive neurological disturbances, arterial degeneration, connective tissue and hair abnormalities. This syndrome is... -
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- A Case of Menkes disease with Infantile Spasm
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Ahn SH, Park SY, Kang SG, Lee JE, Kwon YS, Son BK, Yoo HW
- KMID: 2329520
- J Korean Child Neurol Soc.
- 2007 Nov;15(2):199-204.
Menkes disease, so called kinky-hair syndrome, is a rare, genetic and progressive neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper transporting... -
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- A case of Menkes disease with unusual hepatomegaly
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Jeong GU, Cho A, Hwang H, Hwang YS, Kim KJ, Chae JH, Seo JK
- KMID: 2280463
- Korean J Pediatr.
- 2008 May;51(5):538-541.
- doi: 10.3345/kjp.2008.51.5.538
Menkes disease is an X-linked recessive copper transport disorder characterized by neurological deterioration, connective-tissue damage, and abnormal hair growth. It is caused by the mutation of the ATP7A gene. This... -
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- Vesicostomy for Upper Urinary Tract Preservation in Menkes Disease
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Hwang Y, Yu DH, Kim KH, Seo EJ, Kim JS, Noh JH
- KMID: 1883703
- Chonnam Med J.
- 2007 Dec;43(3):229-231.
Menkes disease is an X-linked recessive neurodegenerative disorder characterized by an inborn error of copper metabolism. Neurologic complications are frequent in Menkes disease. Urological findings vary from the most frequent... -
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- Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
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Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS
- KMID: 1094269
- J Korean Med Sci.
- 2011 Jul;26(7):951-953.
- doi: 10.3346/jkms.2011.26.7.951
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and... -
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- Neuroradiological Findings in a Case of Menke's Disease
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Chung SH, Lee MH, Yoon HK, Kim BK, Chung HJ
- KMID: 1961852
- J Korean Child Neurol Soc.
- 1998 Oct;6(1):106-112.
Menkes disease is an X-linked recessively inherited neurodegenerative disorder of copper metabolism leading to death in early childhood. This disease is characterized by low serum, liver and brain Cu levels,... -
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- A Case of Kinky Hair Disease
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Lee YS, Park SW, Cha BH, Lim BK, Kim JS, Lee WS, Kim DJ, Kim MS, Cho KN, Hahn SH
- KMID: 2137176
- J Korean Child Neurol Soc.
- 2001 May;9(1):164-170.
Kinky hair disease is X-linked recessive neurodegenerative disorder produced by defects in a gene(ATP7A) that encodes an intracellular copper-transporting ATPase. About 90-95% of the patients have a severe clinical course... -
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- Controversial issues in the legal restriction for prenatal genetic testing in Korea
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Choi J, Jeong SY, Kim HJ
- KMID: 2288521
- J Genet Med.
- 2007 Dec;4(2):186-189.
More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing.... -
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- Diffusion-Weighted MR Imaging of Unusual White Matter Lesion in a Patient with Menkes Disease
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Lee ES, Ryoo JW, Choi DS, Cho JM, Kwon SH, Shin HS
- KMID: 753871
- Korean J Radiol.
- 2007 Feb;8(1):82-85.
- doi: 10.3348/kjr.2007.8.1.82
We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in... -
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- Menkes disease: an autopsy case with metal analysis of hair
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Moon HR, Chi JG, Yeon KM, Suh YL, Sung RH, Kim BI, Rhi JL, Kim SH
- KMID: 1421249
- J Korean Med Sci.
- 1987 Mar;2(1):75-83.
- doi: 10.3346/jkms.1987.2.1.75
We report the first case of Menkes' disease in Korea, occurring in a 1 1/2 year old boy with characteristic clinical, arteriographic and pathologic features. Postmortem examination revealed widespread neuronal... -
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- Urological Problems in Patients with Menkes Disease
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Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI
- KMID: 2447044
- J Korean Med Sci.
- 2019 Jan;34(1):e4.
- doi: 10.3346/jkms.2019.34.e4
BACKGROUND: Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue... -
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