Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT...
Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
Vitamin B12 deficiency is a recognised cause of neurological manifestations, including peripheral neuropathy, behavioural changes, and seizures. However, developmental and epileptic encephalopathy due to vitamin B12 deficiency is very rare. Here, we report an infant with vitamin B12-responsive developmental and epileptic encephalopathy due to a nov...
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Full title
Vitamin B12 responsive developmental and epileptic encephalopathy due to a novel mutation in the FUT2 gene: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_db797437587a4bea804680486e16e34c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_db797437587a4bea804680486e16e34c
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ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-024-05106-1
