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。MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Neuropathology of 3-Hydroxyisobutyric Aciduria, an Autopsy Case Report
Xianyuan Song et al.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES (2009)
Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria
FJ Loupatty et al.
MOLECULAR GENETICS AND METABOLISM (2006)
2005 Annual Report of the American Association of Poison Control Centers' National Poisoning and Exposure Database
Melisa W. Lai et al.
CLINICAL TOXICOLOGY (2006)
Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level
JCK Barber et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
8p23 duplication reconsidered: is it a true euchromatic variant with no clinical manifestation?
CH Tsai et al.
JOURNAL OF MEDICAL GENETICS (2002)
3-hydroxyisobutyric aciduria: phenotypic heterogeneity within a single family
JPH Shield et al.
CLINICAL DYSMORPHOLOGY (2001)
A severely brain-damaged case of 3-hydroxyisobutyric aciduria
M Sasaki et al.
BRAIN & DEVELOPMENT (2001)
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency
KL Chambliss et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Polymorphisms of human aldehyde dehydrogenases - Consequences for drug metabolism and disease
V Vasiliou et al.
PHARMACOLOGY (2000)