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Quoted phrase not found in phrase index: "Neurodegeneration and seizures due to copper transport defect"
Page 1
Epilepsy in children with Menkes disease: a systematic review of literature.
J Child Neurol. 2014 Dec;29(12):1757-64. doi: 10.1177/0883073814541469. Epub 2014 Jul 17.
J Child Neurol. 2014.
PMID: 25038123
Review.
Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progressive neurodegeneration and peculiar "kinky hair." ...The history of epilepsy is usually characterized by 3 stages: an early stage w …
Menkes disease is a lethal multisystemic disorder of copper metabolism characterized by connective tissue abnormalities, progr …
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
Lee JS, Lim BC, Kim KJ, Hwang YS, Cheon JE, Kim IO, Seong MW, Park SS, Chae JH.
Lee JS, et al.
Brain Dev. 2015 Feb;37(2):223-9. doi: 10.1016/j.braindev.2014.04.012. Epub 2014 May 29.
Brain Dev. 2015.
PMID: 24882692
Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced anticonvulsant-resistant seizures. EEGs in focal seizures usually revealed interictal focal epileptiform discharges over the po …
Two nonsense mutations and one gross deletion were also found. The five male patients with identified molecular defects experienced a …
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A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Lin YJ, Ho CS, Hsu CH, Lin JL, Chuang CK, Tsai JD, Chiu NC, Lin HY, Lin SP.
Lin YJ, et al.
Pediatr Neonatol. 2017 Feb;58(1):89-92. doi: 10.1016/j.pedneo.2014.05.008. Epub 2014 Nov 14.
Pediatr Neonatol. 2017.
PMID: 25771438
Free article.
Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results in the unique kinky hair appearance, neurodegeneration, developmental delay, seizures, failure to thrive and other connective …
Menkes disease is a rare neurodegenerative disorder caused by mutations in ATP7A gene. Deficiency in copper-dependent enzymes results …
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