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。Randomized, Controlled Trial of Miglustat in Gaucher's Disease Type 3
Raphael Schiffmann et al.
ANNALS OF NEUROLOGY (2008)
Proton MRS of a child with Sandhoff disease reveals elevated brain hexosamine
B. Wilken et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2008)
Grip strength in healthy Caucasian adults, reference values
Christian M. Guenther et al.
JOURNAL OF HAND SURGERY-AMERICAN VOLUME (2008)
Neurocognitive testing in late-onset Tay-Sachs disease: A pilot study
D. Elstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2008)
Late-onset Tay-Sachs disease: The spectrum of peripheral neuropathy in 30 affected patients
Barbara E. Shapiro et al.
MUSCLE & NERVE (2008)
Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study
Marc C. Patterson et al.
LANCET NEUROLOGY (2007)
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat
A. Treiber et al.
XENOBIOTICA (2007)
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
Gustavo H. B. Maegawa et al.
PEDIATRICS (2006)
Substrate reduction therapy in the infantile form of Tay-Sachs disease
B Bembi et al.
NEUROLOGY (2006)
Allogeneic BMT followed by substrate reduction therapy in a child with subacute Tay-Sachs disease
JFM Jacobs et al.
BONE MARROW TRANSPLANTATION (2005)
An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
GM Pastores et al.
CLINICAL THERAPEUTICS (2005)
Late-onset Tay-Sachs disease: Phenotypic characterization and genotypic correlations in 21 affected patients
O Neudorfer et al.
GENETICS IN MEDICINE (2005)
Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS)
JC Rucker et al.
NEUROLOGY (2004)
Neuropsychological assessment of patients with late onset GM2 gangliosidosis
CM Zaroff et al.
NEUROLOGY (2004)
Juvenile Sandhoff disease - Nine new cases and a review of the literature
CJ Hendriksz et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement
TM Cox et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2003)
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
T Cox et al.
LANCET (2000)
Maximal isometric muscle strength: Normative values and gender-specific relation to age
T Stoll et al.
CLINICAL RHEUMATOLOGY (2000)
分享论文
