RSS-Feed abonnieren
Bitte kopieren Sie die angezeigte URL und fügen sie dann in Ihren RSS-Reader ein.
https://www.thieme-connect.de/rss/thieme/de/10.1055-s-00000034.xml
Klin Padiatr 2015; 227(01): 33-34
DOI: 10.1055/s-0033-1363246
DOI: 10.1055/s-0033-1363246
Pictorial Essay
Intrapartum Acquired Skull Fracture as First Sign of Menkes Disease
Intrapartal erworbene Schädelfraktur als erstes Zeichen eines Menkes- SyndromsWeitere Informationen
Publikationsverlauf
Publikationsdatum:
21. Januar 2014 (online)
Key words
Menkes disease - copper transport disorder - skull fracture - neurodegeneration - pili tortiSchlüsselwörter
Menkes-Syndrom - Kupfertransportstörung - Schädelfraktur - Neurodegeneration - Pili torti-
References
- 1 Donsante A, Yi L, Zerfas PM. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther 2011; 19: 2114-2123
- 2 Haddad MR, Macri CJ, Holmes CS et al. In utero copper treatment for Menkes disease associated with a severe ATP7A mutation. Mol Genet Metab 2012; 107: 222-228
- 3 Kaler SG, Holmes CS, Goldstein DS et al. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med 2008; 358: 605-614
- 4 Kodama H, Fujisawa C, Bhadhprasti W. Inherited copper transport disorders: biochemical mechanisms, diagnosis and treatment. Curr Drug Metab 2012; 13: 237-250
- 5 Kodama H, Murata Y, Kobayashi M. Clinical manifestations and treatment of Menkes disease and its variants. Pediatr Int 1999; 41: 423-429
- 6 Menkes JH, Alte M, Steigleder GK et al. A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 1962; 29: 764-769
- 7 Tønnesen T, Kleijer WJ, Horn N. Incidence of Menkes disease. Hum Genet 1991; 86: 408-410
- 8 Tümer Z, Møller LB. Menkes disease. Eur J Hum Genet 2010; 18: 511-518
- 9 Ubhi T, Reece A, Craig A. Congenital skull fracture as a presentation of Menkes disease. Dev Med Child Neurol 2000; 42: 347-348