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11. Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements. Matern D; Basheeruddin K; Klug TL; McKee G; Edge PU; Hall PL; Kurtzberg J; Orsini JJ Int J Neonatal Screen; 2024 Jan; 10(1):. PubMed ID: 38390974 [TBL] [Abstract][Full Text] [Related]
12. Newborn screening for Krabbe disease: the New York State model. Duffner PK; Caggana M; Orsini JJ; Wenger DA; Patterson MC; Crosley CJ; Kurtzberg J; Arnold GL; Escolar ML; Adams DJ; Andriola MR; Aron AM; Ciafaloni E; Djukic A; Erbe RW; Galvin-Parton P; Helton LE; Kolodny EH; Kosofsky BE; Kronn DF; Kwon JM; Levy PA; Miller-Horn J; Naidich TP; Pellegrino JE; Provenzale JM; Rothman SJ; Wasserstein MP Pediatr Neurol; 2009 Apr; 40(4):245-52; discussion 253-5. PubMed ID: 19302934 [TBL] [Abstract][Full Text] [Related]
13. Brain-stem auditory and visual evoked potentials in children with Krabbe disease. Aldosari M; Altuwaijri M; Husain AM Clin Neurophysiol; 2004 Jul; 115(7):1653-6. PubMed ID: 15203066 [TBL] [Abstract][Full Text] [Related]
14. Psychosine, a marker of Krabbe phenotype and treatment effect. Escolar ML; Kiely BT; Shawgo E; Hong X; Gelb MH; Orsini JJ; Matern D; Poe MD Mol Genet Metab; 2017 Jul; 121(3):271-278. PubMed ID: 28579020 [TBL] [Abstract][Full Text] [Related]
15. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Thompson-Stone R; Ream MA; Gelb M; Matern D; Orsini JJ; Levy PA; Rubin JP; Wenger DA; Burton BK; Escolar ML; Kurtzberg J Mol Genet Metab; 2021; 134(1-2):53-59. PubMed ID: 33832819 [TBL] [Abstract][Full Text] [Related]
16. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. Saavedra-Matiz CA; Luzi P; Nichols M; Orsini JJ; Caggana M; Wenger DA J Neurosci Res; 2016 Nov; 94(11):1076-83. PubMed ID: 27638593 [TBL] [Abstract][Full Text] [Related]
17. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Duffner PK; Caviness VS; Erbe RW; Patterson MC; Schultz KR; Wenger DA; Whitley C Genet Med; 2009 Jun; 11(6):450-4. PubMed ID: 19346954 [TBL] [Abstract][Full Text] [Related]
18. Newborn screening for Krabbe disease: a model of cooperation. Howell RR Pediatr Neurol; 2009 Apr; 40(4):256-7. PubMed ID: 19302936 [No Abstract] [Full Text] [Related]
19. Family Attitudes regarding Newborn Screening for Krabbe Disease: Results from a Survey of Leukodystrophy Registries. Blackwell K; Gelb MH; Grantham A; Spencer N; Webb C; West T Int J Neonatal Screen; 2020 Aug; 6(3):. PubMed ID: 33239592 [TBL] [Abstract][Full Text] [Related]
20. Why must the debate continue on Krabbe disease newborn screening? Pike-Langenfeld S Am J Med Genet C Semin Med Genet; 2022 Jun; 190(2):153-155. PubMed ID: 36056676 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]