Krabbe disease
Sign in to saveAlso known as Galactosylceramide beta-galactosidase deficiency (disorder), Krabbe's disease, Krabbe's leukodystrophy, beta galactocerebrosidase deficiency, globoid cell leukodystrophy, diffuse globoid body sclerosis, globoid cell leukoencephalopathy, Galactosylceramide beta-galactosidase deficiency
congenital disorder of the nervous system
Research
1,900 papers- Krabbe disease: New hope for an old disease.Neuroscience letters · 2021
- Newborn screening for Krabbe disease in New York State: the first eight years' experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2016
- Krabbe disease: an overview.International journal of clinical pharmacology and therapeutics · 2009
- Clinical management of Krabbe disease.Journal of neuroscience research · 2016
- Neuroimmune mechanisms in Krabbe's disease.Journal of neuroscience research · 2016
via PubMed
Wikidata facts
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- NCI Thesaurus ID
- C61254
- exact match
- www.orpha.net/ORDO/Orphanet_487
- Commons category
- Krabbe disease
via Wikidata · CC0
Connections
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dysphagia
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myelin
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symptomatic treatment
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galactosylceramidase
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sphingolipidosis
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brain
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International Standard Book Number
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enzyme
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deafness
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pain
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fever
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