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Urological Problems in Patients with Menkes Disease

Kim MY, Kim JH, Cho MH, Choi YH, Kim SH, Im YJ, Park K, Kang HG, Chae JH, Cheong HI

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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A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene

Kang SA, Jeong SW, Lee EH

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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Hair Abnormality and Cutis Laxa in Menkes Disease

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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Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease

Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS

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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A case of Menkes disease with unusual hepatomegaly

Jeong GU, Cho A, Hwang H, Hwang YS, Kim KJ, Chae JH, Seo JK

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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Identification of novel mutations of the ATP7A gene and prenatal diagnosis of Menkes disease by mutation analysis

Choi JH, Kim GH, Yoo HW

  • KMID: 1111645
  • J Genet Med.
  • 2007 Jun;4(1):38-44.
PURPOSE: Menkes disease is an X-linked recessively inherited disorder caused by the mutation of the ATP7A gene encoding copper-transporting P-type ATPase. The phenotypic features are progressive neurological degeneration, mental retardation,...
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3-year Follow-up of a Menkes Disease Patient

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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Diffusion-Weighted MR Imaging of Unusual White Matter Lesion in a Patient with Menkes Disease

Lee ES, Ryoo JW, Choi DS, Cho JM, Kwon SH, Shin HS

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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Controversial issues in the legal restriction for prenatal genetic testing in Korea

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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Vesicostomy for Upper Urinary Tract Preservation in Menkes Disease

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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A Case of Menkes disease with Infantile Spasm

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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An Anesthetic Experience in a Patient with Menkes Disease: A case report

Shinn HK, Lee HS, Cha YD, Lee JH, Kim HZ, Song JH

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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