Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study.
Taylor Fischer, S; Frederick, Allison B; Tran, ViLinh; Li, Shuzhao; Jones, Dean P; Fridovich-Keil, Judith L.
J Inherit Metab Dis
; 42(2): 254-263, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30667068
Newborn screening for galactosaemia.
Analysis of metabolomic data: tools, current strategies and future challenges for omics data integration.
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.