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Dive into the research topics where Laura Duque Lasio is active. These topic labels come from the works of this person and are generated automatically. Together they form a unique fingerprint. Contact the Profiles team with questions.
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C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism
Duque Lasio, M. L., Zaitsev, M., Hobert, J. A., De Biase, I., Pasquali, M. & Yuzyuk, T., Aug 2025, In: Molecular genetics and metabolism. 145, 4, 109160.Research output: Contribution to journal › Article › peer-review
1 Link opens in a new tab Scopus citations -
The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Miller, M. J., Duque Lasio, M. L., Kennedy, A. D., McClellan, R., Oglesbee, D., Smith, W. E., Sutton, V. R. & Cowan, T., Oct 2025, In: Genetics in Medicine. 27, 10, 101493.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin
Lasio, M. L. D., Leshinski, A. C., Ducich, N. H., Flore, L. A., Lehman, A., Shur, N., Jayakar, P. B., Hainline, B. E., Basinger, A. A., Wilson, W. G., Diaz, G. A., Erbe, R. W., Koeberl, D. D., Vockley, J. & Bedoyan, J. K., Jun 2023, In: Molecular genetics and metabolism. 139, 2, 107605.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations -
Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities
Wongkittichote, P., Duque Lasio, M. L., Magistrati, M., Pathak, S., Sample, B., Carvalho, D. R., Ortega, A. B., Castro, M. A. A., de Gusmao, C. M., Toler, T. L., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2023, In: Molecular genetics and metabolism. 139, 4, 107630.Research output: Contribution to journal › Article › peer-review
11 Link opens in a new tab Scopus citations -
PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations
Starosta, R. T., Kerashvili, N., Pruitt, C., Schultz, M. J., Boyer, S. W., Morava, E., Lasio, M. L. D. & Grange, D. K., Nov 2023, In: JIMD Reports. 64, 6, p. 424-433 10 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Link opens in a new tab Scopus citations