Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

Abstract Background Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease results in progressive neurodegeneration with...

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Hlavní autoři:	Maria L. Beltran-Quintero, Nicholas A. Bascou, Michele D. Poe, David A. Wenger, Carlos A. Saavedra-Matiz, Matthew J. Nichols, Maria L. Escolar
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2019-02-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	Krabbe disease Globoid cell leukodystrophy Early-infantile Infantile Natural history Newborn screening
On-line přístup:	http://link.springer.com/article/10.1186/s13023-019-1018-4
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