Treatment of Niemann-Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year

Niemann-Pick disease type C (NP-C) is a lipid storage disorder characterized by the accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system of certain cells in the central nervous system (CNS) and visceral organs. Clinical symptoms include progressive neurolog...

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Veröffentlicht in:	Journal of inherited metabolic disease 2007-10, Vol.30 (5), p.826-826
Hauptverfasser:	Chien, Y.-H, Lee, N.-C, Tsai, L.-K, Huang, A.-C, Peng, S.-F, Chen, S.-J, Hwu, W.-L
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Deoxynojirimycin - analogs & derivatives 1-Deoxynojirimycin - pharmacology 1-Deoxynojirimycin - therapeutic use Adolescent Biological and medical sciences Child Cognition - drug effects Deglutition - drug effects Enzyme Inhibitors - pharmacology Enzyme Inhibitors - therapeutic use Errors of metabolism General aspects Glucosyltransferases - antagonists & inhibitors Glucosyltransferases - metabolism Humans Interpersonal Relations Lipids (lysosomal enzyme disorders, storage diseases) Medical genetics Medical sciences Metabolic diseases Niemann-Pick Disease, Type C - drug therapy Niemann-Pick Disease, Type C - enzymology Niemann-Pick Disease, Type C - physiopathology Niemann-Pick Disease, Type C - psychology Recovery of Function - drug effects Severity of Illness Index Time Factors Treatment Outcome Verbal Behavior - drug effects Walking
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