The utility of reverse phenotyping: a case of lysinuric protein intolerance presented with childhood osteoporosis
Makaleler > Tam Makale · 2021
Yazarlar: Enise Avci Durmusalioglu, Esra IŞIK, Durdugül AYYILDIZ EMECEN, Ruhsar Damla GÖKŞEN, Samim ÖZEN, HÜSEYİN ONAY, Melis Kose, Tahir ATİK, Şükran DARCAN, Muhsin Özgür ÇOĞULU, Feriştah Ferda ÖZKINAY
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 2021, cilt 34, ss 957-960
Özet
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 utility of reverse phenotyping.