These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. A qualitative assessment of parental experiences with false-positive newborn screening for Krabbe disease. Peterson L; Siemon A; Olewiler L; McBride KL; Allain DC J Genet Couns; 2022 Feb; 31(1):252-260. PubMed ID: 34265137 [TBL] [Abstract][Full Text] [Related]
5. A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease. Jalal K; Carter RL; Barczykowski A; Tomatsu S; Langan TJ Int J Neonatal Screen; 2022 Nov; 8(4):. PubMed ID: 36412587 [TBL] [Abstract][Full Text] [Related]
6. Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. Turgeon CT; Orsini JJ; Sanders KA; Magera MJ; Langan TJ; Escolar ML; Duffner P; Oglesbee D; Gavrilov D; Tortorelli S; Rinaldo P; Raymond K; Matern D J Inherit Metab Dis; 2015 Sep; 38(5):923-9. PubMed ID: 25762404 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. Barczykowski AL; Foss AH; Duffner PK; Yan L; Carter RL Am J Med Genet A; 2012 Nov; 158A(11):2835-42. PubMed ID: 22991292 [TBL] [Abstract][Full Text] [Related]
10. Weighing the evidence for newborn screening for early-infantile Krabbe disease. Kemper AR; Knapp AA; Green NS; Comeau AM; Metterville DR; Perrin JM Genet Med; 2010 Sep; 12(9):539-43. PubMed ID: 20601893 [TBL] [Abstract][Full Text] [Related]
11. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Wasserstein MP; Andriola M; Arnold G; Aron A; Duffner P; Erbe RW; Escolar ML; Estrella L; Galvin-Parton P; Iglesias A; Kay DM; Kronn DF; Kurtzberg J; Kwon JM; Langan TJ; Levy PA; Naidich TP; Orsini JJ; Pellegrino JE; Provenzale JM; Wenger DA; Caggana M Genet Med; 2016 Dec; 18(12):1235-1243. PubMed ID: 27171547 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. Clinical management of Krabbe disease. Escolar ML; West T; Dallavecchia A; Poe MD; LaPoint K J Neurosci Res; 2016 Nov; 94(11):1118-25. PubMed ID: 27638597 [TBL] [Abstract][Full Text] [Related]
15. Ethical issues with testing and treatment for Krabbe disease. Ehmann P; Lantos JD Dev Med Child Neurol; 2019 Dec; 61(12):1358-1361. PubMed ID: 31090922 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Hematopoietic Stem Cell Transplantation to Treat Leukodystrophies: Clinical Practice Guidelines from the Hunter's Hope Leukodystrophy Care Network. Page KM; Stenger EO; Connelly JA; Shyr D; West T; Wood S; Case L; Kester M; Shim S; Hammond L; Hammond M; Webb C; Biffi A; Bambach B; Fatemi A; Kurtzberg J Biol Blood Marrow Transplant; 2019 Dec; 25(12):e363-e374. PubMed ID: 31499213 [TBL] [Abstract][Full Text] [Related]
18. Should states adopt newborn screening for early infantile Krabbe disease? Dimmock DP Genet Med; 2016 Mar; 18(3):217-20. PubMed ID: 26845105 [TBL] [Abstract][Full Text] [Related]
19. Early infantile Krabbe disease: results of the World-Wide Krabbe Registry. Duffner PK; Barczykowski A; Jalal K; Yan L; Kay DM; Carter RL Pediatr Neurol; 2011 Sep; 45(3):141-8. PubMed ID: 21824559 [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]