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Paper Details

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.
Sci Rep
13
2022
CTD, CTDdm, CTDncd, GABA, GABA-transaminase, GABA-transaminase deficiency, IEMs, Zellweger spectrum disorders, adenylosuccinase, adenylosuccinase deficiency, argininemia, aromatic L-amino acid, aromatic L-amino acid decarboxylase, aromatic L-amino acid decarboxylase deficiency, cerebral creatine deficiency syndrome type 2, citrullinemia, cobalamin, cobalamin biosynthesis defect, creatine, glutaric acidemia type 1, inborn errors of metabolism, maple syrup urine disease, metabolic disorders, methylmalonic, methylmalonic aciduria, ornithine, ornithine transcarbamylase, ornithine transcarbamylase deficiency, phenylketonuria, plasma samples, propionic acidemia, rhizomelic chondrodysplasia punctata
Author NameAffiliation
Kevin RiehleBaylor College of Medicine
Michael F WanglerBaylor College of Medicine
Michael F WanglerTexas Children's Hospital
Michael F WanglerJan and Dan Duncan Texas Children's Hospital Neurological Research Institute
Aleksandar MilosavljevicBaylor College of Medicine
Aleksandar MilosavljevicBaylor College of Medicine
Aleksandar MilosavljevicBaylor College of Medicine
Aleksandar MilosavljevicBaylor College of Medicine
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Release 1.2