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Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16.
Mol Psychiatry. 2023.
PMID: 36385166
Free PMC article.
Impact of Structural GLA Protein Changes on Peripheral GLA Activity and Substrate Accumulation in Fabry Disease Patients.
Da Silva JD, Ribeiro I, Caseiro C, Pinto E, Rocha S, Ribeiro H, Ferreira C, Silva E, Laranjeira F, Tkachenko N, Lacerda L, Quelhas D.
Da Silva JD, et al.
Endocr Metab Immune Disord Drug Targets. 2023 Sep 14. doi: 10.2174/1871530323666230914114414. Online ahead of print.
Endocr Metab Immune Disord Drug Targets. 2023.
PMID: 37711123
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Understanding Hypertriglyceridemia: Integrating Genetic Insights.
Alves M, Laranjeira F, Correia-da-Silva G.
Alves M, et al.
Genes (Basel). 2024 Jan 30;15(2):190. doi: 10.3390/genes15020190.
Genes (Basel). 2024.
PMID: 38397180
Free PMC article.
Review.
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