Neuroacanthocytosis Syndromes

Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'...

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Vydáno v:	Orphanet journal of rare diseases Ročník 6; číslo 1; s. 68
Hlavní autoři:	Jung, Hans H, Danek, Adrian, Walker, Ruth H
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 25.10.2011 BioMed Central Ltd Springer Nature B.V BMC
Témata:	Abetalipoproteinemia - genetics Abetalipoproteinemia - pathology Abetalipoproteinemia - therapy Adult Basal Ganglia - pathology Child Cognition Disorders - genetics Cognition Disorders - pathology Cognition Disorders - therapy Creatine kinase Degeneration Female Gene mutations Genealogy Genetics Genotype & phenotype Human Genetics Humans Hypobetalipoproteinemias - genetics Hypobetalipoproteinemias - pathology Hypobetalipoproteinemias - therapy Kinases Male Medical research Medicine Medicine & Public Health Movement Disorders - genetics Movement Disorders - pathology Movement Disorders - therapy Mutation Nervous system Neuroacanthocytosis - classification Neuroacanthocytosis - genetics Neuroacanthocytosis - pathology Neuroacanthocytosis - physiopathology Neurodegeneration Neurology Ostomy Pharmacology/Toxicology Physiological aspects Rare diseases Review Syndrome United States Switzerland Germany Huntington Disease Chronic Granulomatous Disease Dystonia Neurodegeneration With Brain Iron Accumulation Hyperkinetic Movement Disorder
ISSN:	1750-1172, 1750-1172
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