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Page 1
Aceruloplasminemia.
Miyajima H, Hosoi Y. Miyajima H, et al. 2003 Aug 12 [updated 2018 Sep 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Aug 12 [updated 2018 Sep 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301666 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. ...Increased hepatic iron concentration. The diagnosis of aceruloplasminemia is established in a proband with typical clinical findings and the identificatio …
CLINICAL CHARACTERISTICS: Aceruloplasminemia is characterized by iron accumulation in the brain and viscera. ...Increased hepatic iro …
Aceruloplasminemia.
Kono S. Kono S. Curr Drug Targets. 2012 Aug;13(9):1190-9. doi: 10.2174/138945012802002320. Curr Drug Targets. 2012. PMID: 22515740 Review.
Aceruloplasminemia is classified as an inherited neurodegenerative disorder called "neurodegeneration with brain iron accumulation" (NBIA) due to genetic defects associated with iron metabolism. ...In the following review of aceruloplasminemia, the ceruloplasmin gen …
Aceruloplasminemia is classified as an inherited neurodegenerative disorder called "neurodegeneration with brain iron accumulation" ( …
Aceruloplasminemia: an update.
Kono S. Kono S. Int Rev Neurobiol. 2013;110:125-51. doi: 10.1016/B978-0-12-410502-7.00007-7. Int Rev Neurobiol. 2013. PMID: 24209437 Review.
Aceruloplasminemia is an inherited neurodegenerative disorder involving "neurodegeneration with brain iron accumulation," which is caused by genetic defects in the ceruloplasmin gene. ...The aim of this chapter is to provide an overview of not only the clinical features, g …
Aceruloplasminemia is an inherited neurodegenerative disorder involving "neurodegeneration with brain iron accumulation," which is ca …
[Aceruloplasminemia, a rare condition not to be overlooked].
Lobbes H, Reynaud Q, Mainbourg S, Lega JC, Durieu I, Durupt S. Lobbes H, et al. Rev Med Interne. 2020 Nov;41(11):769-775. doi: 10.1016/j.revmed.2020.06.002. Epub 2020 Jul 16. Rev Med Interne. 2020. PMID: 32682623 Review. French.
Aceruloplasminemia is a rare iron-overload disease that should be better known by physicians. ...Physicians should search for aceruloplasminemia in several situations with high ferritin levels: microcytic anaemia, diabetes mellitus, neurological and psychiatric diso …
Aceruloplasminemia is a rare iron-overload disease that should be better known by physicians. ...Physicians should search for acer …
Aceruloplasminemia.
Gitlin JD. Gitlin JD. Pediatr Res. 1998 Sep;44(3):271-6. doi: 10.1203/00006450-199809000-00001. Pediatr Res. 1998. PMID: 9727700 Review.
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurologic symptoms. ...Taken together with earlier studies that characterized ceruloplasmin as a ferroxidase and recent work indicating an essenti …
Aceruloplasminemia is an autosomal recessive disorder of iron metabolism characterized by diabetes, retinal degeneration, and neurolo …
Aceruloplasminemia: A Severe Neurodegenerative Disorder Deserving an Early Diagnosis.
Marchi G, Busti F, Lira Zidanes A, Castagna A, Girelli D. Marchi G, et al. Front Neurosci. 2019 Apr 5;13:325. doi: 10.3389/fnins.2019.00325. eCollection 2019. Front Neurosci. 2019. PMID: 31024241 Free PMC article. Review.
Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutations in the Ceruloplasmin gene (CP), which in turn lead to absence or strong reduction of CP activity. ...
Aceruloplasminemia (ACP) is a rare, adult-onset, autosomal recessive disorder, characterized by systemic iron overload due to mutatio …
Aceruloplasminemia.
Harris ZL. Harris ZL. J Neurol Sci. 2003 Mar 15;207(1-2):108-9. doi: 10.1016/s0022-510x(02)00434-3. J Neurol Sci. 2003. PMID: 12614942 Review. No abstract available.
Aceruloplasminemia.
Miyajima H. Miyajima H. Neuropathology. 2015 Feb;35(1):83-90. doi: 10.1111/neup.12149. Epub 2014 Aug 28. Neuropathology. 2015. PMID: 25168455 Free article.
Aceruloplasminemia is characterized by progressive neurodegeneration with brain iron accumulation due to the complete lack of ceruloplasmin ferroxidase activity caused by mutations in the ceruloplasmin gene. ...The glycosylphosphatidylinositol (GPI)-linked ceruloplasmin on …
Aceruloplasminemia is characterized by progressive neurodegeneration with brain iron accumulation due to the complete lack of cerulop …
Aceruloplasminemia exhibits typical MRI findings.
Örken C, Üstün Özek S, Jamoussi E, Emir C. Örken C, et al. Acta Neurol Belg. 2023 Jun;123(3):1141-1143. doi: 10.1007/s13760-022-01964-7. Epub 2022 May 21. Acta Neurol Belg. 2023. PMID: 35596899 No abstract available.
[Aceruloplasminemia].
Miyajima H. Miyajima H. Rinsho Shinkeigaku. 2000 Dec;40(12):1290-2. Rinsho Shinkeigaku. 2000. PMID: 11464482 Review. Japanese.
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains greater than 95% of the copper present in human plasma. It is synthesized mainly in the liver. Aceruloplasminemia is an autosomal recessive disorder affecting iron metabolism, originally called famili …
Ceruloplasmin is an abundant alpha 2-serum glycoprotein that contains greater than 95% of the copper present in human plasma. It is synthesi …
268 results

Searches related to "aceruloplasminemia"