Associated Papers
Lysinuric protein intolerance: Unusual clinical manifestations in a compound heterozygote with a novel pathogenic variant.
Pascual López JR et al.
Biochemistry and Biophysics Reports, 2025
A novel variant in a Chinese boy with lysinuric protein intolerance: A case report and literature review.
Wang Y et al.
Heliyon, 2024
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman.
Hanafusa H et al.
Jimd Reports, 2023
37927490 (PubMed )
Supplement: JMD2-64-410-s003.xlsx › S_table3
Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells.
Nassir N et al.
Human Genomics, 2021
34802461 (PubMed )
Supplement: 40246_2021_368_MOESM2_ESM.xlsx › DbLOF
Lysinuric protein intolerance mimicking N-acetylglutamate synthase deficiency in a nine-year-old boy.
Al-Qattan S et al.
Molecular Genetics and Metabolism Reports, 2021
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A et al.
Journal of Human Genetics, 2019
Analysis of LPI-causing mutations on y+LAT1 function and localization.
Rotoli BM et al.
Orphanet Journal of Rare Diseases, 2019
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
Estève E et al.
Human Pathology, 2017
Growth hormone deficiency in a patient with lysinuric protein intolerance.
Esposito V et al.
European Journal of Pediatrics, 2006
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2005
Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Toivonen M et al.
Biochemical and Biophysical Research Communications, 2002
Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo MP et al.
American Journal of Human Genetics, 2000
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