Mucopolysaccharidosis type II in females: Case report and review of literature

Mucopolysaccharidosis type II (Hunter disease, iduronate-2-sulfatase deficiency) was diagnosed in a 4-year-old female by demonstrating low iduronate-2-sulfatase activity both in leukocytes and fibroblasts and by the presence of a novel, complex rearrangement of the iduronate-2-sulfatase gene in hete...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Pediatric neurology 2005-04, Vol.32 (4), p.270-272
Hauptverfasser:	Tuschl, Karin, Gal, Andreas, Paschke, Eduard, Kircher, Susanne, Bodamer, Olaf A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Child, Preschool Chromosomes, Human, X Female Glycoproteins - genetics Glycoproteins - metabolism Humans Medical sciences Mucopolysaccharidosis II - diagnosis Mucopolysaccharidosis II - genetics Mucopolysaccharidosis II - metabolism Neurology Phenotype Sex Factors Tumors of the nervous system. Phacomatoses Vascular diseases and vascular malformations of the nervous system
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!