Mucopolysaccharidosis type IIIA: Clinical spectrum and genotype-phenotype correlations

Objective Mucopolysaccharidosis (MPS) IIIA (Sanfilippo syndrome type A) is a lysosomal storage disorder caused by deficiency of the enzyme sulfamidase. Information on the natural course of MPS IIIA is scarce, but is much needed in view of emerging therapies. Methods Clinical history and molecular de...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Annals of neurology 2010-12, Vol.68 (6), p.876-887
Hauptverfasser:	Valstar, Marlies J., Neijs, Sanne, Bruggenwirth, Hennie T., Olmer, Renske, Ruijter, George J. G., Wevers, Ron A., van Diggelen, Otto P., Poorthuis, Ben J., Halley, Dicky J., Wijburg, Frits A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aminoacid disorders Behavioral Symptoms - etiology Biological and medical sciences Cells, Cultured Child Child, Preschool Cohort Studies DNA Mutational Analysis Epilepsy - etiology Errors of metabolism Female Fibroblasts Genetic Association Studies Genotype Hearing Disorders - etiology Humans Hydrolases - genetics Kaplan-Meier Estimate Male Medical sciences Metabolic diseases Middle Aged Mucopolysaccharidosis III - complications Mucopolysaccharidosis III - enzymology Mucopolysaccharidosis III - genetics Mucopolysaccharidosis III - pathology Mutation - genetics Neurology Phenotype Pregnancy Regression Analysis Severity of Illness Index Skin - pathology Sleep Wake Disorders - etiology Vision Disorders - etiology Young Adult
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!