Suha Daas
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Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns Open
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 …
Hereditary orotic aciduria identified by newborn screening Open
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmen…
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia Open
Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐ 1 ‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, …
First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency—Clinical Achievements and Insights Open
Severe combined immunodeficiency (SCID), the most severe form of T cell immunodeficiency, is detectable through quantification of T cell receptor excision circles (TRECs) in dried blood spots obtained at birth. Herein, we describe the resu…