Article
Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.
Journal of inherited metabolic disease - 1 Jan 2025
Rock Rachel, Rock Oded, Daas Suha, Biton-Regev Vered, Sagiv Nadav, Salah Nasser Abu, Anikster Yair, Barel Ortal, Cohen Ronen Hady, Dumin Elena, Fattal-Valevski Aviva, Falik-Zaccai Tzipora, Herskovitz Eli, Josefsberg Sagi, Khammash Hatem, Kneller Katya, Korman Stanley H, Landau Yuval E, Lerman-Sagie Tally, Mandel Hanna, Pras Elon, Reznik-Wolf Haike, Shaag Avraham, Lotan Nava Shaul, Spiegel Ronen, Tal Galit, Staretz-Chacham Orna, Wilnai Yael, Almashanu Shlomo
Abstract excerpt
Newborn screening (NBS) for isovaleric acidemia (IVA) reduces mortality and morbidity; however, it has also resulted in the detection of individuals with an asymptomatic or mild presentation for which early detection via newborn screening has not been proven to alter neurological outcome. We reevaluated biochemical and molecular data for newborns flagged positive for IVA in aim of developing a new screening...
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