Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family.

Yilin PangFeng HuoXiao LiuYimu FanZhezhe ZhangJie WuQuan Wang

Published in: Pediatric investigation (2024)

LPI is a congenital genetic metabolic disease with multi-system involvement. Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.

Keyphrases

protein protein
amino acid
weight loss
stem cells
small molecule
copy number
dna methylation
bone marrow