Publication: Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome
dc.contributor.author | Aksu Uzunhan, Tugce | |
dc.contributor.author | UYANIK, BÜLENT | |
dc.contributor.author | Ersoy, Melike | |
dc.contributor.author | Turkmenoglu, Yelda | |
dc.contributor.institutionauthor | UYANIK, BÜLENT | |
dc.date.accessioned | 2022-02-15T20:59:23Z | |
dc.date.available | 2022-02-15T20:59:23Z | |
dc.date.issued | 2022-02-01T00:00:00Z | |
dc.identifier.citation | Aksu Uzunhan T., UYANIK B., Ersoy M., Turkmenoglu Y., -Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome-, ACTA NEUROLOGICA BELGICA, 2022 | |
dc.identifier.doi | 10.1007/s13760-022-01885-5 | |
dc.identifier.pubmed | 35122617 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12645/30401 | |
dc.identifier.wos | WOS:000751580000001 | |
dc.title | Cobalamin E disease with a novel homozygous MTRR mutation as a cobalamin-related remethylation disorder: a treatable etiology in West syndrome | |
dc.type | Article | |
dspace.entity.type | Publication | |
local.avesis.id | f8c58627-6ceb-4402-8e44-29e24f8dd6c5 | |
local.indexed.at | PubMed | |
local.indexed.at | WOS | |
local.publication.isinternational | 1 | |
relation.isAuthorOfPublication | 6cccc08a-a3f5-4f79-b95f-4045154501f4 | |
relation.isAuthorOfPublication.latestForDiscovery | 6cccc08a-a3f5-4f79-b95f-4045154501f4 |