Genotype and phenotype classification of 29 patients affected by Krabbe disease
Genotype and phenotype classification of 29 patients affected by Krabbe disease
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
Journal title
Language
English
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Publisher
Hoboken, USA: John Wiley & Sons, Inc
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Scope and Contents
Contents
Krabbe disease is a rare neurodegenerative lysosomal storage disorder caused by mutations in the galactocerebrosidase gene, GALC. Krabbe disease usually affects infants, but has also been reported in older children and adults. Different phenotypes are described based on age at onset. The gene encoding the galactocerebrosidase enzyme was cloned and...
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Full title
Genotype and phenotype classification of 29 patients affected by Krabbe disease
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6498822
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6498822
Other Identifiers
ISSN
2192-8312,2192-8304
E-ISSN
2192-8312
DOI
10.1002/jmd2.12007
