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

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

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_60c1340b163e438dafa7eda134aebc1e

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

About this item

Full title

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

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.46-46, Article 46

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

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 reduced quality of life and early death. The purpose of this prospect...

Alternative Titles

Full title

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

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_60c1340b163e438dafa7eda134aebc1e

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_60c1340b163e438dafa7eda134aebc1e

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/s13023-019-1018-4

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