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Dive into the research topics where Laura P Mackay is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Metabolomic Profiling Reveals Brain Lipid Alterations in PEX7-Deficient Models of Rhizomelic Chondrodysplasia Punctata
Sankhe, R., Williams, M. I., Fallatah, W., Mackay, L., Brown, M. L., Bhagwat, P., Elsea, S. H., Braverman, N. & Wangler, M. F., Jan 2026, In: Biomolecules. 16, 1, 6.Research output: Contribution to journal › Article › peer-review
Open Access -
C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder
Baylor College of Medicine Center for Precision Medicine Models, Jul 2025, In: Genetics in Medicine. 27, 7, 101429.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Expanded Clinical Phenotype and the Role of Untargeted Metabolomics Analysis in Confirming the Diagnosis of Sodium-Dependent Multivitamin Transporter Deficiency
Walimbe, A. S., Waskow, E., Mackay, L., Miller, M., Gijavanekar, C., Difalco, C. R., Elsea, S. H. & Scaglia, F., Jun 2025, In: American Journal of Medical Genetics, Part A. 197, 6, e64014.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes
DiFalco, C. R., Gijavanekar, C., Wang, Y., Grace, A. N., Machol, K., Emrick, L., Liu, N., Mizerik, E., Mackay, L., Dai, H., Vossaert, L., Xia, F., Elsea, S. H. & Scaglia, F., Mar 2025, In: Molecular Genetics and Metabolism. 144, 3, 109009.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
Phenylketonuria—Past, Present, and Future Directions
Bailey, N. A. & Mackay, L., 2024, In: OBM Genetics. 8, 3Research output: Contribution to journal › Review article › peer-review
Open Access4 Link opens in a new tab Scopus citations