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The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med. 2020 Jun;22(6):1108-1118. doi: 10.1038/s41436-020-0764-y. Epub 2020 Feb 24.
Genet Med. 2020.
PMID: 32089546
Free article.
Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Lasio MLD, Leshinski AC, Ducich NH, Flore LA, Lehman A, Shur N, Jayakar PB, Hainline BE, Basinger AA, Wilson WG, Diaz GA, Erbe RW, Koeberl DD, Vockley J, Bedoyan JK.
Lasio MLD, et al.
Mol Genet Metab. 2023 Jun;139(2):107605. doi: 10.1016/j.ymgme.2023.107605. Epub 2023 May 9.
Mol Genet Metab. 2023.
PMID: 37207470
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PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations.
Starosta RT, Kerashvili N, Pruitt C, Schultz MJ, Boyer SW, Morava E, Lasio MLD, Grange DK.
Starosta RT, et al. Among authors: lasio mld.
JIMD Rep. 2023 Sep 20;64(6):424-433. doi: 10.1002/jmd2.12396. eCollection 2023 Nov.
JIMD Rep. 2023.
PMID: 37927489
Free PMC article.
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