Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes

Purpose Abnormalities in cerebrospinal fluid (CSF) have been reported in Hurler syndrome, a fatal neurodegenerative lysosomal disorder. While no biomarker has predicted neurocognitive response to treatment, one of these abnormalities, glycosaminoglycan nonreducing ends (NREs), holds promise to monit...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genetics in medicine 2019-11, Vol.21 (11), p.2552-2560
Hauptverfasser:	Eisengart, Julie B., Pierpont, Elizabeth I., Kaizer, Alexander M., Rudser, Kyle D., King, Kelly E., Pasquali, Marzia, Polgreen, Lynda E., Dickson, Patricia I., Le, Steven Q., Miller, Weston P., Tolar, Jakub, Orchard, Paul J., Lund, Troy C.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers Biomarkers, Pharmacological - cerebrospinal fluid Biomedical and Life Sciences Biomedicine Child, Preschool Enzyme Replacement Therapy - methods Enzymes Female Glycosaminoglycans - analysis Glycosaminoglycans - cerebrospinal fluid Hematopoietic Stem Cell Transplantation Human Genetics Humans Infant Injections, Spinal - methods Laboratory Medicine Male Mucopolysaccharidosis I - drug therapy Mucopolysaccharidosis I - physiopathology Treatment Outcome
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!