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Celia's Encephalopathy (BSCL2-Gene-Related): Current Understanding.
Sánchez-Iglesias S, Fernández-Pombo A, Cobelo-Gómez S, Hermida-Ameijeiras Á, Alarcón-Martínez H, Domingo-Jiménez R, Ruíz Riquelme AI, Requena JR, Araújo-Vilar D. Sánchez-Iglesias S, et al. J Clin Med. 2021 Apr 1;10(7):1435. doi: 10.3390/jcm10071435. J Clin Med. 2021. PMID: 33916074 Free PMC article. Review.
LipoDDx: a mobile application for identification of rare lipodystrophy syndromes.
Araújo-Vilar D, Fernández-Pombo A, Rodríguez-Carnero G, Martínez-Olmos MÁ, Cantón A, Villar-Taibo R, Hermida-Ameijeiras Á, Santamaría-Nieto A, Díaz-Ortega C, Martínez-Rey C, Antela A, Losada E, Muy-Pérez AE, González-Méndez B, Sánchez-Iglesias S. Araújo-Vilar D, et al. Orphanet J Rare Dis. 2020 Apr 2;15(1):81. doi: 10.1186/s13023-020-01364-1. Orphanet J Rare Dis. 2020. PMID: 32241282 Free PMC article.
Familial partial lipodystrophy syndromes.
Fernández-Pombo A, Sánchez-Iglesias S, Cobelo-Gómez S, Hermida-Ameijeiras Á, Araújo-Vilar D. Fernández-Pombo A, et al. Presse Med. 2021 Nov;50(3):104071. doi: 10.1016/j.lpm.2021.104071. Epub 2021 Oct 2. Presse Med. 2021. PMID: 34610417 Review.
The role of phenylalanine levels in the neuropsychological and neuroanatomical status of adult patients with phenylketonuria: The impact of fluctuations.
Costa-Lathan C, Vazquez-Agra N, Marques-Afonso AT, Cruces-Sande A, Martinez-Olmos MA, Araujo-Vilar D, Hermida-Ameijeiras A. Costa-Lathan C, et al. Among authors: hermida ameijeiras a. J Investig Med. 2023 Feb;71(2):149-158. doi: 10.1177/10815589221143485. Epub 2023 Jan 16. J Investig Med. 2023. PMID: 36647337
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.
Barbosa-Gouveia S, Fernández-Crespo S, Lazaré-Iglesias H, González-Quintela A, Vázquez-Agra N, Hermida-Ameijeiras Á. Barbosa-Gouveia S, et al. Among authors: hermida ameijeiras a. J Clin Med. 2023 Mar 30;12(7):2596. doi: 10.3390/jcm12072596. J Clin Med. 2023. PMID: 37048678 Free PMC article.
45 results