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Wilson disease and related copper disorders.
Lorincz MT. Lorincz MT. Handb Clin Neurol. 2018;147:279-292. doi: 10.1016/B978-0-444-63233-3.00018-X. Handb Clin Neurol. 2018. PMID: 29325617 Review.
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menkes disease, occipital horn syndrome, and ATP7A-related distal motor neuropathy. ...
Mutations in a second, closely related copper-transporting ATPase, ATP7A, cause a spectrum of copper deficiency disorders that include Menke …
Inborn errors of copper metabolism.
Kaler SG. Kaler SG. Handb Clin Neurol. 2013;113:1745-54. doi: 10.1016/B978-0-444-59565-2.00045-9. Handb Clin Neurol. 2013. PMID: 23622398 Free PMC article. Review.
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital horn syndrome (OHS), and a newly identified allelic variant restricted to motor neurons called X-linked distal hereditary motor neu …
Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents: Menkes disease, occipital ho …
Disorders of heavy metals.
Woimant F, Trocello JM. Woimant F, et al. Handb Clin Neurol. 2014;120:851-64. doi: 10.1016/B978-0-7020-4087-0.00057-7. Handb Clin Neurol. 2014. PMID: 24365357 Review.
Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital horn syndrome, ATP7A-related distal motor neuropathy, and Wilson disease) and acquired diseases associated with copper defic …
Copper disorders are divided into two classes: ATP7A- or ATP7B-related inherited copper transport disorders (Menkes disease, occipital …
Small amounts of functional ATP7A protein permit mild phenotype.
Møller LB. Møller LB. J Trace Elem Med Biol. 2015;31:173-7. doi: 10.1016/j.jtemb.2014.07.022. Epub 2014 Aug 8. J Trace Elem Med Biol. 2015. PMID: 25172213 Review.
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked distal motor neuropathy. These disorders are mainly seen in male individuals, but a few affected females have been described. ...
Mutations in ATP7A lead to at least three allelic disorders: Menkes disease (MD), Occipital horn syndrome and X-linked …
Menkes syndrome and animal models.
Mercer JF. Mercer JF. Am J Clin Nutr. 1998 May;67(5 Suppl):1022S-1028S. doi: 10.1093/ajcn/67.5.1022S. Am J Clin Nutr. 1998. PMID: 9587146 Review.
Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. ...Copper-resistant cells overexpress MNK and can efflux more copper than parental cells, consistent with the copper efflux role proposed for MNK. Patie …
Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. ...Copper-re …
Translational research investigations on ATP7A: an important human copper ATPase.
Kaler SG. Kaler SG. Ann N Y Acad Sci. 2014 May;1314:64-8. doi: 10.1111/nyas.12422. Epub 2014 Apr 15. Ann N Y Acad Sci. 2014. PMID: 24735419 Free PMC article. Review.
Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital horn syndrome and ATP7A-related isolated distal motor neuropathy. ...
Mutations in the gene encoding this multitasking molecule are now implicated in at least two other distinctive phenotypes: occipital …
ATP7A-related copper transport diseases-emerging concepts and future trends.
Kaler SG. Kaler SG. Nat Rev Neurol. 2011 Jan;7(1):15-29. doi: 10.1038/nrneurol.2010.180. Nat Rev Neurol. 2011. PMID: 21221114 Free PMC article. Review.
Remarkably, a newly discovered ATP7A disorder-isolated distal motor neuropathy-has none of the characteristic clinical or biochemical abnormalities of Menkes disease or its milder allelic variant occipital horn syndrome (OHS), instead resembling Charcot-Marie …
Remarkably, a newly discovered ATP7A disorder-isolated distal motor neuropathy-has none of the characteristic clinical or biochemical abnorm …
Pathology, clinical features and treatments of congenital copper metabolic disorders--focus on neurologic aspects.
Kodama H, Fujisawa C, Bhadhprasit W. Kodama H, et al. Brain Dev. 2011 Mar;33(3):243-51. doi: 10.1016/j.braindev.2010.10.021. Epub 2010 Nov 26. Brain Dev. 2011. PMID: 21112168 Review.
Genetic disorders of copper metabolism, including Menkes kinky hair disease (MD), occipital horn syndrome (OHS) and Wilson's disease (WD) are reviewed with a focus on the neurological aspects. ...
Genetic disorders of copper metabolism, including Menkes kinky hair disease (MD), occipital horn syndrome (OHS) and Wil …
Clinical manifestations and treatment of Menkes disease and its variants.
Kodama H, Murata Y, Kobayashi M. Kodama H, et al. Pediatr Int. 1999 Aug;41(4):423-9. doi: 10.1046/j.1442-200x.1999.01095.x. Pediatr Int. 1999. PMID: 10453199 Review.
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a neurodegenerative disease with X-linked recessive inheritance. ...Moreover, early treatment cannot improve non-neurologi …
The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. …
22 results