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Page 1
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 …
ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, Beyens A, Callewaert B. De Feyter S, et al. J Inherit Metab Dis. 2023 Mar;46(2):163-173. doi: 10.1002/jimd.12590. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36692329 Review.
Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome (OHS) that may further present with developmental delay and connective tissue manifestations. ...
Bony exostoses, radial head dislocations, herniations and dental abnormalities are specific for occipital horn syndrome …
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 …
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 …
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.
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. Milder variants exist, including occipital horn syndrome, which is primarily a connective tissue disorder. ...Patients with Menkes syndrome are predicted to hav …
Menkes syndrome is an X-linked genetic copper deficiency that is usually fatal in early childhood. Milder variants exist, including occip …
Genetic disorders of copper metabolism.
Petrukhin K, Gilliam TC. Petrukhin K, et al. Curr Opin Pediatr. 1994 Dec;6(6):698-701. doi: 10.1097/00008480-199412000-00015. Curr Opin Pediatr. 1994. PMID: 7849817 Review.
Wilson's disease and Indian childhood cirrhosis result from the toxic effects of copper accumulation in the liver. Menkes' disease and, most likely, occipital horn syndrome result from copper deficiency secondary to disturbances in copper transport. ...The po …
Wilson's disease and Indian childhood cirrhosis result from the toxic effects of copper accumulation in the liver. Menkes' disease and, most …
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 …
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 …
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 …
22 results