相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Motion analysis of a child with Niemann-Pick disease type C treated with miglustat
Alex R. Paciorkowski et al.
MOVEMENT DISORDERS (2008)
Valproate-associated hyperammonemic encephalopathy
Jim Wadzinski et al.
JOURNAL OF THE AMERICAN BOARD OF FAMILY MEDICINE (2007)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
The natural history of Niemann-Pick disease type C in the UK
J. Imrie et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat
A. Treiber et al.
XENOBIOTICA (2007)
Niemann-Pick C disease in Spain:: Clinical spectrum and development of a disability scale
C. Iturriaga et al.
JOURNAL OF THE NEUROLOGICAL SCIENCES (2006)
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
RH Lachmann et al.
NEUROBIOLOGY OF DISEASE (2004)
Consequences of NPC1 and NPC2 loss of function in mammalian neurons
SU Walkley et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2004)
Critical role for glycosphingolipids in Niemann-Pick disease type C
M Zervas et al.
CURRENT BIOLOGY (2001)
Pharmacological and genetic modifications of somatic cholesterol do not substantially alter the course of CNS disease in Niemann-Pick C mice
RP Erickson et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)