The Great Masquerade: Varying Manifestations of Lysinuric Protein Intolerance
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Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s12098-024-05124-y.pdf
Reference9 articles.
1. Torrents D, Mykkänen J, Pineda M, et al. Identification of SLC7A7, encoding y+ LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–6.
2. Mauhin W, Habarou F, Gobin S, et al. Update on lysinuric protein intolerance, a multi-faceted disease retrospective cohort analysis from birth to adulthood. Orphanet J Rare Dis. 2017;12:3.
3. Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46:D1062-7.
4. Richards S, Aziz N, Bale S, et al; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.
5. Contreras JL, Ladino MA, Aránguiz K, et al. Immune dysregulation mimicking systemic lupus erythematosus in a patient with lysinuric protein intolerance: case report and review of the literature. Front Pediatr. 2021;9:673957.
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1. Hemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance;Indian Journal of Pediatrics;2024-08-01
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