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The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18.
J Inherit Metab Dis. 2024.
PMID: 38499966
Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases.
Rovira-Remisa MM, Moreira M, Ventura PS, Gonzalez-Alvarez P, Mestres N, Graterol Torres F, Joaquín C, Seuma AR, Del Mar Martínez-Colls M, Roche A, Ibáñez-Micó S, López-Laso E, Méndez-Hernández MJ, Murillo M, Monlleó-Neila L, Maqueda-Castellote E, Del Toro Riera M, Felipe-Rucián A, Giralt-López M, Cortès-Saladelafont E.
Rovira-Remisa MM, et al.
Mol Genet Metab Rep. 2023 Jun;35:100962. doi: 10.1016/j.ymgmr.2023.100962. Epub 2023 Mar 6.
Mol Genet Metab Rep. 2023.
PMID: 36909454
Free PMC article.
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The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
Elmonem MA, Belanger-Quintana A, Bordugo A, Boruah R, Cortès-Saladelafont E, Endrakanti M, Giraldo P, Grünert SC, Gupta N, Kabra M, Knerr I, Krämer J, Kuster A, Levtchenko E, Ngu LH, Rovira-Remisa MM, Sass JO, Sykut-Cegielska J, Tummolo A, van den Heuvel LP.
Elmonem MA, et al. Among authors: rovira remisa mm.
Mol Genet Metab. 2020 Nov;131(3):285-288. doi: 10.1016/j.ymgme.2020.09.004. Epub 2020 Sep 25.
Mol Genet Metab. 2020.
PMID: 33004274
Free PMC article.
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