A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family
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Publisher
Milan: Springer Milan
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Language
English
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Publisher
Milan: Springer Milan
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Scope and Contents
Contents
Krabbe disease (KD) or globoid cell leukodystrophy is an autosomal recessive lysosomal storage disorder involving the white matter of the peripheral and the central nervous systems. It is caused by a deficiency of galactocerebrosidase enzyme activity. The most common manifestation is the classical early onset KD that leads to patient’s loss before...
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Full title
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family
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TN_cdi_proquest_miscellaneous_2103674978
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2103674978
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ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-018-3556-2
