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2021 5
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Page 1
Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Friedman J, Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernandez-Vara J, Kurian MA. Friedman J, et al. Among authors: moreno martinez d. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S40-S41. doi: 10.1002/mdc3.13304. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514047 Free PMC article. No abstract available.
Phenotypic effect of GBA1 variants in individuals with and without Parkinson's disease: The RAPSODI study.
Toffoli M, Chohan H, Mullin S, Jesuthasan A, Yalkic S, Koletsi S, Menozzi E, Rahall S, Limbachiya N, Loefflad N, Higgins A, Bestwick J, Lucas-Del-Pozo S, Fierli F, Farbos A, Mezabrovschi R, Lee-Yin C, Schrag A, Moreno-Martinez D, Hughes D, Noyce A, Colclough K, Jeffries AR, Proukakis C, Schapira AHV. Toffoli M, et al. Among authors: moreno martinez d. Neurobiol Dis. 2023 Nov;188:106343. doi: 10.1016/j.nbd.2023.106343. Epub 2023 Nov 3. Neurobiol Dis. 2023. PMID: 37926171 Free article.
Biomarkers in Fabry Disease. Implications for Clinical Diagnosis and Follow-up.
Carnicer-Cáceres C, Arranz-Amo JA, Cea-Arestin C, Camprodon-Gomez M, Moreno-Martinez D, Lucas-Del-Pozo S, Moltó-Abad M, Tigri-Santiña A, Agraz-Pamplona I, Rodriguez-Palomares JF, Hernández-Vara J, Armengol-Bellapart M, Del-Toro-Riera M, Pintos-Morell G. Carnicer-Cáceres C, et al. Among authors: moreno martinez d. J Clin Med. 2021 Apr 13;10(8):1664. doi: 10.3390/jcm10081664. J Clin Med. 2021. PMID: 33924567 Free PMC article. Review.
Galactosemia Diagnosis by Whole Exome Sequencing Later in Life.
Lucas-Del-Pozo S, Moreno-Martinez D, Camprodon-Gomez M, Moreno-Martinez D, Hernández-Vara J. Lucas-Del-Pozo S, et al. Among authors: moreno martinez d. Mov Disord Clin Pract. 2021 Sep 3;8(Suppl 1):S37-S39. doi: 10.1002/mdc3.13295. eCollection 2021 Aug. Mov Disord Clin Pract. 2021. PMID: 34514046 Free PMC article. No abstract available.
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Carnicer-Cáceres C, Villena-Ortiz Y, Castillo-Ribelles L, Barquín-Del-Pino R, Camprodon-Gomez M, Felipe-Rucián A, Moreno-Martínez D, Lucas-Del-Pozo S, Hernández-Vara J, García-Serra A, Tigri-Santiña A, Moltó-Abad M, Agraz-Pamplona I, Rodriguez-Palomares JF, Limeres-Freire J, Macaya-Font M, Rodríguez-Sureda V, Miguel LD, Del-Toro-Riera M, Pintos-Morell G, Arranz-Amo JA. Carnicer-Cáceres C, et al. Among authors: moreno martinez d. 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
Genotyping-By-Sequencing diversity analysis of international Vanilla collections uncovers hidden diversity and enables plant improvement.
Chambers A, Cibrián-Jaramillo A, Karremans AP, Moreno Martinez D, Hernandez-Hernandez J, Brym M, Resende MFR Jr, Moloney R, Sierra SN, Hasing T, Alomia YA, Hu Y; Vanilla Genotyping Consortium. Chambers A, et al. Among authors: moreno martinez d. Plant Sci. 2021 Oct;311:111019. doi: 10.1016/j.plantsci.2021.111019. Epub 2021 Aug 13. Plant Sci. 2021. PMID: 34482920
Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience.
Quijada-Fraile P, Arranz Canales E, Martín-Hernández E, Ballesta-Martínez MJ, Guillén-Navarro E, Pintos-Morell G, Moltó-Abad M, Moreno-Martínez D, García Morillo S, Blasco-Alonso J, Couce ML, Gil Sánchez R, Cortès-Saladelafont E, López Rodríguez MA, García-Silva MT, Morales Conejo M. Quijada-Fraile P, et al. Among authors: moreno martinez d. Orphanet J Rare Dis. 2021 Nov 3;16(1):464. doi: 10.1186/s13023-021-02074-y. Orphanet J Rare Dis. 2021. PMID: 34732228 Free PMC article.