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Weighing the evidence for newborn screening for early-infantile Krabbe disease.
Kemper AR, Knapp AA, Green NS, Comeau AM, Metterville DR, Perrin JM. Kemper AR, et al. Genet Med. 2010 Sep;12(9):539-43. doi: 10.1097/GIM.0b013e3181e85721. Genet Med. 2010. PMID: 20601893 Free article. Review.
CONCLUSIONS: Although early treatment with hematopoietic stem-cell transplant seems to alter early-childhood mortality and some of the morbidity associated with early-infantile Krabbe disease, significant gaps in knowledge exist regarding the accuracy of screening, the strategy f …
CONCLUSIONS: Although early treatment with hematopoietic stem-cell transplant seems to alter early-childhood mortality and some of the morbi …
Precision newborn screening for lysosomal disorders.
Minter Baerg MM, Stoway SD, Hart J, Mott L, Peck DS, Nett SL, Eckerman JS, Lacey JM, Turgeon CT, Gavrilov D, Oglesbee D, Raymond K, Tortorelli S, Matern D, Mørkrid L, Rinaldo P. Minter Baerg MM, et al. Genet Med. 2018 Aug;20(8):847-854. doi: 10.1038/gim.2017.194. Epub 2017 Nov 9. Genet Med. 2018. PMID: 29120458 Free article.
The remaining case was a heterozygote for the latter condition. The false-positive rate was 0.0018% and the positive predictive value was 80%. CONCLUSION: Postanalytical interpretive tools can drastically reduce false-positive outcomes, with preliminary evidence of no grea …
The remaining case was a heterozygote for the latter condition. The false-positive rate was 0.0018% and the positive predictive value …
Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.
Duffner PK, Barczykowski A, Jalal K, Yan L, Kay DM, Carter RL. Duffner PK, et al. Pediatr Neurol. 2011 Sep;45(3):141-8. doi: 10.1016/j.pediatrneurol.2011.05.007. Pediatr Neurol. 2011. PMID: 21824559
Because neither galactocerebrosidase activity nor most genotypes reliably predict phenotype, the World Wide Registry was developed to determine whether other clinical/neurodiagnostic data could predict early infantile Krabbe disease in the newborn screening populati …
Because neither galactocerebrosidase activity nor most genotypes reliably predict phenotype, the World Wide Registry was developed to …
Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease.
Gupta A, Poe MD, Styner MA, Panigrahy A, Escolar ML. Gupta A, et al. Neuroimage Clin. 2014 Sep 26;7:792-8. doi: 10.1016/j.nicl.2014.09.014. eCollection 2015. Neuroimage Clin. 2014. PMID: 25844309 Free PMC article.
We compared white matter fiber tract properties to those of normal controls (n = 336) and assessed the ability of tract-based properties to predict longitudinal development in four functional domains (cognitive, fine motor, gross motor, adaptive behavior) after treatment w …
We compared white matter fiber tract properties to those of normal controls (n = 336) and assessed the ability of tract-based properties to …
A staging system for infantile Krabbe disease to predict outcome after unrelated umbilical cord blood transplantation.
Escolar ML, Poe MD, Martin HR, Kurtzberg J. Escolar ML, et al. Pediatrics. 2006 Sep;118(3):e879-89. doi: 10.1542/peds.2006-0747. Epub 2006 Aug 21. Pediatrics. 2006. PMID: 16923928
RESULTS: A staging algorithm for infants with infantile Krabbe disease was developed and tested for predicting neurodevelopmental outcome after umbilical cord blood transplantation. ...Clinical indicators were found to best classify stage of disease. Pretransplant stage wa …
RESULTS: A staging algorithm for infants with infantile Krabbe disease was developed and tested for predicting neurodevelopmental out …
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 Jr, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C. Duffner PK, et al. Genet Med. 2009 Jun;11(6):450-4. doi: 10.1097/GIM.0b013e3181a16e04. Genet Med. 2009. PMID: 19346954 Free article.
Although transplanted children are far better neurologically than they would have been had they followed the typical fulminant course of early infantile Krabbe disease, anecdotal reports have surfaced suggesting that the majority of presymptomatic children transplanted for …
Although transplanted children are far better neurologically than they would have been had they followed the typical fulminant course …
Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease.
Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ Jr. Chuang WL, et al. Clin Chim Acta. 2013 Apr 18;419:73-6. doi: 10.1016/j.cca.2013.01.017. Epub 2013 Feb 16. Clin Chim Acta. 2013. PMID: 23419961
Further studies are needed to determine if psychosine can be used as a predictor of disease status/progression in screen positive newborns....
Further studies are needed to determine if psychosine can be used as a predictor of disease status/progression in screen positive new …
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
Gucev Z, Tasic V. Gucev Z, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(3):99-101. doi: 10.1515/prilozi-2015-0084. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 27442402 Free article.
The father was the carrier of p.Asp187Val (c.560A>T), while the mother was the carrier of the p.Ile250Thr (c.749T>C) in exon 6 of the GALC gene. The clinical course in this compound heterozygote is severe and the patient passed away at the age of 3 years. ...
The father was the carrier of p.Asp187Val (c.560A>T), while the mother was the carrier of the p.Ile250Thr (c.749T>C) in exon 6 of the …
12 results