Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Published 2019 View Full Article
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Title
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Authors
Keywords
Krabbe disease, Globoid cell leukodystrophy, Early-infantile, Infantile, Natural history, Newborn screening
Journal
Orphanet Journal of Rare Diseases
Volume 14, Issue 1, Pages -
Publisher
Springer Nature
Online
2019-02-18
DOI
10.1186/s13023-019-1018-4
References
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Related references
Note: Only part of the references are listed.- Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease
- (2018) Jennifer M. Kwon et al. Orphanet Journal of Rare Diseases
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- 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
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- (2015) A. Gupta et al. NeuroImage-Clinical
- Cost-Effective and Scalable DNA Extraction Method from Dried Blood Spots
- (2013) C. A. Saavedra-Matiz et al. CLINICAL CHEMISTRY
- Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations?
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- Dangerous and expensive screening and treatment for rare childhood diseases: The case of krabbe disease
- (2012) John D. Lantos Developmental Disabilities Research Reviews
- Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry
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- Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry
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- (2011) A. Biffi et al. HUMAN MOLECULAR GENETICS
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- (2008) Holly R Martin et al. ACTA PAEDIATRICA
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- (2008) Patricia K. Duffner et al. PEDIATRIC NEUROLOGY
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