Lysinuric protein intolerance caused by a homozygous SLC7A7 deletion and presented with hyperferritinemia and osteoporosis in two siblings

Lysinuric protein intolerance (LPI) is a rare, inherited aminoaciduria caused by biallelic pathogenic variants in the amino acid transporter gene SLC7A7 (OMIM *603593). Individuals with LPI show extreme variability in their clinical presentation, and LPI is included in the differential diagnosis of...

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Detalles Bibliográficos
Autores principales: Kalay, Irem, Aykut, Hüseyin, Caliskan, Zuhal, Yigit, Gökhan, Wollnik, Bernd
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10694772/
http://dx.doi.org/10.1016/j.ymgmr.2023.101022

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