Article
The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis.
Journal of pediatric endocrinology & metabolism : JPEM - 27 Jul 2021
Avci Durmusalioglu Enise, Isik Esra, Ayyildiz Emecen Durdugul, Goksen Damla, Ozen Samim, Onay Huseyin, Kose Melis, Atik Tahir, Darcan Sukran, Cogulu Ozgur, Ozkinay Ferda
Abstract excerpt
OBJECTIVES: Childhood osteoporosis is often a consequence of a chronic disease or its treatment. Lysinuric protein intolerance (LPI), a rare secondary cause of the osteoporosis, is an autosomal recessive disorder with clinical features ranging from minimal protein intolerance to severe multisystemic involvement. We report a case diagnosed to have LPI using a Next Generation Sequencing (NGS) panel and evaluate the...
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