Wird geladen...

The Mild Form of Menkes Disease: A 34 Year Progress Report on the Original Case

Classical Menkes disease is a neurodegenerative disorder caused by mutations in the copper-transporting ATPase ATP7A gene which, when untreated, is usually fatal in early childhood. A mild form of Menkes disease was originally reported in 1981 and clinical progress of the patient at 10 years describ...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Tchan, M. C., Wilcken, B., Christodoulou, J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Berlin Heidelberg 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565640/
https://ncbi.nlm.nih.gov/pubmed/23430551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_183
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!