Ontology highlight
ABSTRACT:
SUBMITTER: Chen W
PROVIDER: S-EPMC5203948 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Chen Wyman W Caston Rose R Balakrishnan Bijina B Siddiqi Anwer A Parmar Kamalpreet K Tang Manshu M Feng Merry M Lai Kent K
Journal of inherited metabolic disease 20161025 1
Despite adequate dietary management, patients with classic galactosemia continue to have increased risks of cognitive deficits, speech dyspraxia, primary ovarian insufficiency, and abnormal motor development. A recent evaluation of a new galactose-1 phosphate uridylyltransferase (GALT)-deficient mouse model revealed reduced fertility and growth restriction. These phenotypes resemble those seen in human patients. In this study, we further assess the fidelity of this new mouse model by examining t ...[more]