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。3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature
Francesca Nardecchia et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)
3-Methylglutaconyl-Coenzyme-A Hydratase Deficiency and the Development of Dilated Cardiomyopathy
Craig D. Spergel et al.
CARDIOLOGY RESEARCH (2014)
The 3-methylglutaconic acidurias: what's new?
Saskia B. Wortmann et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Biochemical characterization of human 3-methylglutaconyl-CoA hydratase and its role in leucine metabolism
M Mack et al.
FEBS JOURNAL (2006)
NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism
UFH Engelke et al.
NMR IN BIOMEDICINE (2006)
A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I
M Matsumori et al.
PEDIATRICS INTERNATIONAL (2005)
3-Methylglutaconic aciduria type I in a boy with fever-associated seizures
S Illsinger et al.
PEDIATRIC NEUROLOGY (2004)
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
TBN Ly et al.
HUMAN MUTATION (2003)
3-methylglutaconic aciduria type I is caused by mutations in AUH
L Ijlst et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
分享论文
