Dual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation

Sadeleştirilmiş öğe sayfası
dc.contributor.authorErsoy, Melike
dc.contributor.authorAbali, Zehra Yavas
dc.contributor.authorPapatya Cakir, Esra Deniz
dc.contributor.authorErdin, Soner
dc.contributor.authorYararbas, Kanay
dc.contributor.authorAbali, Saygin
dc.date.accessioned2025-10-16T15:11:31Z
dc.date.issued2025
dc.identifier.doi10.1515/jpem-2025-0208
dc.identifier.otherWOS:001574103700001
dc.identifier.urihttps://openaccess.acibadem.edu.tr/handle/11443/4760
dc.publisherWALTER DE GRUYTER GMBH
dc.sourceJOURNAL OF PEDIATRIC ENDOCRINOLOGY \& METABOLISM
dc.subjectcombined malonic and methylmalonic aciduria
dc.subjectACSF3
dc.subjectbiotinidase deficiency
dc.subjectBTD
dc.subjectCHRNG
dc.subjectCDK10
dc.titleDual molecular genetic diagnosis with combined malonic and methylmalonic aciduria (CMAMMA): implications of coexisting genetic disorders on clinical presentation
dc.typeArticle; Early Access

Dosyalar

Koleksiyonlar

WOS