Dergi makalesi Açık Erişim
Paketci, C.; Edem, P.; Hiz, S.; Sonmezler, E.; Soydemir, D.; Uzan, G. Sarikaya; Oktay, Y.; O'Heir, E.; Beltran, S.; Laurie, S.; Topf, A.; Lochmuller, H.; Horvath, R.; Yis, U.
<?xml version='1.0' encoding='utf-8'?> <oai_dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:oai_dc="http://www.openarchives.org/OAI/2.0/oai_dc/" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd"> <dc:creator>Paketci, C.</dc:creator> <dc:creator>Edem, P.</dc:creator> <dc:creator>Hiz, S.</dc:creator> <dc:creator>Sonmezler, E.</dc:creator> <dc:creator>Soydemir, D.</dc:creator> <dc:creator>Uzan, G. Sarikaya</dc:creator> <dc:creator>Oktay, Y.</dc:creator> <dc:creator>O'Heir, E.</dc:creator> <dc:creator>Beltran, S.</dc:creator> <dc:creator>Laurie, S.</dc:creator> <dc:creator>Topf, A.</dc:creator> <dc:creator>Lochmuller, H.</dc:creator> <dc:creator>Horvath, R.</dc:creator> <dc:creator>Yis, U.</dc:creator> <dc:date>2020-01-01</dc:date> <dc:description>Background: Congenital disorders of glycosylation (CDG) is a heterogeneous group of congenital metabolic diseases with multisystem clinical involvement. ALG3-CDG is a very rare subtype with only 24 cases reported so far.</dc:description> <dc:identifier>https://aperta.ulakbim.gov.trrecord/5909</dc:identifier> <dc:identifier>oai:zenodo.org:5909</dc:identifier> <dc:rights>info:eu-repo/semantics/openAccess</dc:rights> <dc:rights>http://www.opendefinition.org/licenses/cc-by</dc:rights> <dc:source>BRAIN & DEVELOPMENT 42(7) 539-545</dc:source> <dc:title>Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG</dc:title> <dc:type>info:eu-repo/semantics/article</dc:type> <dc:type>publication-article</dc:type> </oai_dc:dc>
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