The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment.
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Ryder Bryony, Knoll Detlef, Love Donald R, Shepherd Phillip, Love Jennifer M, Reed Peter W, de Hora Mark, Webster Dianne, Glamuzina Emma, Wilson Call
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Molecular genetics and metabolism 2015 Sep .
Miller Marcus J, Burrage Lindsay C, Gibson James B, Strenk Meghan E, Lose Edward J, Bick David P, Elsea Sarah H, Sutton V Reid, Sun Qin, Graham Brett H, Craigen William J, Zhang Victor Wei, Wong Lee-Jun