Newborn screening for Krabbe disease in New York State: the first eight years' experience.
Joseph J OrsiniDenise M KayCarlos A Saavedra-MatizDavid A WengerPatricia K DuffnerRichard W ErbeChad BiskiMonica MartinLea M KreinMatthew NicholsJoanne KurtzbergMaria L EscolarDarius J AdamsGeorgianne L ArnoldAlejandro IglesiasPatricia Galvin-PartonDavid F KronnJennifer M KwonPaul A LevyJoan E PellegrinoNatasha ShurMelissa P WassersteinMichele Caggananull nullPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The positive predictive value of KD screening in NYS is 1.4% (5/346) considering confirmed infantile cases. The incidence of infantile KD in NYS is approximately 1 in 394,000, but it may be higher for later-onset forms.
Keyphrases