Topic · Clinical Biochemistry · Biochemistry, Genetics and Molecular Biology

Metabolism and Genetic Disorders

OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.

Genetic & Genomic Medicine·medRxivPreprint·Oct 29, 2026
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Metabolic landscape of inborn errors of metabolism
Min Ni, Ling Cai, Hieu Vu…+27 more authors·Ralph J. DeBerardinis
This study uses metabolomics to analyze 474 subjects with inborn errors of metabolism, identifying genotype-specific metabolic alterations and providing diagnostic tools and a database of metabolomic features.
DOI 10.64898/2026.10.28.26366400
human·metabolomics
·𝕏 Post·Bluesky
Bioinformatics·BiomoleculesPeer-reviewed·Oct 27, 2026
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Dynamic Changes in the Urinary Proteome of Normal Pregnant Mice Carrying Phenylketonuria-Affected Fetuses
Lili Guo, Youhe Gao
This study identifies candidate urinary proteomic biomarkers in pregnant mice carrying PKU-affected fetuses, showing temporal dynamics and non-invasive potential for early screening.
DOI 10.3390/biom16111566
mouse·proteomics
·𝕏 Post·Bluesky