Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings

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dc.authoridAslan, Mehmet/0000-0001-5710-6592
dc.authoridSigirci, Ahmet/0000-0001-9221-0002
dc.authoridYakıncı, Mehmet Cengiz/0000-0001-5930-4269
dc.authoridKutlu, Ramazan/0000-0001-7941-7025
dc.authorwosidSaraç, Kaya/ABI-1091-2020
dc.authorwosidAslan, Mehmet/AEL-7823-2022
dc.authorwosidSigirci, Ahmet/ABG-7387-2020
dc.authorwosidYakıncı, Mehmet Cengiz/ABI-7519-2020
dc.authorwosidKutlu, Ramazan/B-1624-2016
dc.contributor.authorAlkan, A
dc.contributor.authorKutlu, R
dc.contributor.authorYakinci, C
dc.contributor.authorSigirci, A
dc.contributor.authorAslan, M
dc.contributor.authorSarac, K
dc.date.accessioned2024-08-04T20:13:12Z
dc.date.available2024-08-04T20:13:12Z
dc.date.issued2003
dc.departmentİnönü Üniversitesien_US
dc.description.abstractRhizomelic chondrodysplasia punctata is a member of genetic peroxisomal disorders. Delayed myelination, which is probably related to the inadequacy of plasmalogens biosynthesis, is an important feature of this disorder. Direct assessment of neuropathologic aspects of RCDP syndrome such as neuronal degeneration and delayed myelination is possible with MR spectroscopy. In this report, MR spectroscopy findings (decreased Cho/Cr and increased Ins-Gly/Cr ratios and increased levels of mobile lipids) of a rhizomelic chondrodysplasia punctata case supporting delayed myelination are presented. This is the second report of MR spectroscopy examination of the specific brain metabolic changes associated with rhizomelic chondrodysplasia punctata. (C) 2003 Elsevier Science Inc. All rights reserved.en_US
dc.identifier.doi10.1016/S0730-725X(02)00625-2
dc.identifier.endpage80en_US
dc.identifier.issn0730-725X
dc.identifier.issn1873-5894
dc.identifier.issue1en_US
dc.identifier.pmid12620550en_US
dc.identifier.scopus2-s2.0-0037219940en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage77en_US
dc.identifier.urihttps://doi.org/10.1016/S0730-725X(02)00625-2
dc.identifier.urihttps://hdl.handle.net/11616/93472
dc.identifier.volume21en_US
dc.identifier.wosWOS:000181424500011en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherElsevier Science Incen_US
dc.relation.ispartofMagnetic Resonance Imagingen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectrhizomelic chondrodysplasia punctataen_US
dc.subjectMR spectroscopyen_US
dc.titleDelayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findingsen_US
dc.typeArticleen_US

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