PMM2-CDG and Sensorineural Hearing Loss
dc.contributor.author | Kasapkara, Cigdem Seher | |
dc.contributor.author | Baris, Zeren | |
dc.contributor.author | Kilic, Mustafa | |
dc.contributor.author | Yuksel, Deniz | |
dc.contributor.author | Keldermans, Lies | |
dc.contributor.author | Matthijs, Gert | |
dc.contributor.author | Jaeken, Jaak | |
dc.contributor.pubmedID | 28762107 | en_US |
dc.contributor.researcherID | AAB-4153-2020 | en_US |
dc.date.accessioned | 2023-06-07T07:17:21Z | |
dc.date.available | 2023-06-07T07:17:21Z | |
dc.date.issued | 2017 | |
dc.identifier.endpage | 630 | en_US |
dc.identifier.issn | 0141-8955 | en_US |
dc.identifier.issue | 5 | en_US |
dc.identifier.scopus | 2-s2.0-85026505253 | en_US |
dc.identifier.startpage | 629 | en_US |
dc.identifier.uri | http://hdl.handle.net/11727/9380 | |
dc.identifier.volume | 40 | en_US |
dc.identifier.wos | 000409018300002 | en_US |
dc.language.iso | eng | en_US |
dc.relation.isversionof | 10.1007/s10545-017-0073-z | en_US |
dc.relation.journal | JOURNAL OF INHERITED METABOLIC DISEASE | en_US |
dc.rights | info:eu-repo/semantics/closedAccess | en_US |
dc.subject | DEFICIENT GLYCOPROTEIN SYNDROME | en_US |
dc.subject | IA CDG-IA | en_US |
dc.subject | CONGENITAL DISORDERS | en_US |
dc.subject | GLYCOSYLATION-IP | en_US |
dc.subject | CARDIOMYOPATHY | en_US |
dc.subject | RFT1-CDG | en_US |
dc.subject | SPECTRUM | en_US |
dc.subject | TYPE-1 | en_US |
dc.subject | ONSET | en_US |
dc.title | PMM2-CDG and Sensorineural Hearing Loss | en_US |
dc.type | letter | en_US |
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