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La Tunisie medicale - 5 May 2024

Jbebli Elhem, Jbeli Yosra, Amdouni Rym, Ben Abdelaziz Rim, Boudabous Héla, Ben Chehida Amel, Abdelmoula Slim

Abstract excerpt

INTRODUCTION: Lysinuric protein intolerance (LPI) is a rare inherited metabolic disease. It is caused by a deficiency in cationic amino acid transport caused by mutations in SLC7A7 gene. AIM: To identify the clinical, diagnostic and therapeutic features of lysnuric protein intolerance. METHODS: This was a retrospective study conducted in the pediatric department of La Rabta Hospital over a period of 30 years...

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Share to Amino Acid Metabolism, Inborn Errors
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38801286
DOI: 10.62438/tunismed.v102i5.4792
PMCID: PMC11358835

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