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Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Blood Cells Mol Dis. 2023 Jan;98:102704. doi: 10.1016/j.bcmd.2022.102704. Epub 2022 Oct 5.
Blood Cells Mol Dis. 2023.
PMID: 36265282
The statistical distribution of wrist movements during sleep.
Gimeno V, Sagales T, Miguel L, Ballarin M.
Gimeno V, et al.
Neuropsychobiology. 1998;38(2):108-12. doi: 10.1159/000026525.
Neuropsychobiology. 1998.
PMID: 9732211
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Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M.
Sala-Coromina J, et al. Among authors: miguel ld.
Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar.
Mol Genet Metab Rep. 2020.
PMID: 33365252
Free PMC article.
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