Expanding the phenotype of phospholipid remodelling disease due to MBOAT7 gene defect.

YalnizoÇ§lu, Dilek; Özgül, R Köksal; OÇ§uz, Kader K; Özer, BuÇ§ra; Yücel-Yilmaz, Didem; Gürbüz, Berrak; SerdaroÇ§lu, Esra; Erol, Ilknur; Topçu, Meral; Dursun, Ali

YalnizoÇ§lu, Dilek; Özgül, R Köksal; OÇ§uz, Kader K; Özer, BuÇ§ra; Yücel-Yilmaz, Didem; Gürbüz, Berrak; SerdaroÇ§lu, Esra; Erol, Ilknur; Topçu, Meral; Dursun, Ali.

Afiliação

YalnizoÇ§lu D; Department of Pediatrics, Division of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Özgül RK; Hacettepe University Institute of Child Health, Ankara, Turkey.
OÇ§uz KK; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Özer B; Advanced Genomics and Bioinformatics Research Center (IGBAM), BILGEM, The Scientific and Technological Research Council of Turkey (TUBITAK), Kocaeli, Turkey.
Yücel-Yilmaz D; Hacettepe University Institute of Child Health, Ankara, Turkey.
Gürbüz B; Department of Pediatrics, Division of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.
SerdaroÇ§lu E; Department of Pediatrics, Division of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Erol I; Department of Pediatrics, Division of Neurology, Baskent University Faculty of Medicine, Adana, Turkey.
Topçu M; Department of Pediatrics, Division of Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Dursun A; Department of Pediatrics, Division of Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey.

J Inherit Metab Dis ; 42(2): 381-388, 2019 03.

Article em En | MEDLINE | ID: mdl-30701556

Assuntos

Aciltransferases/genética; Encéfalo/patologia; Epilepsia/genética; Deficiência Intelectual/genética; Proteínas de Membrana/genética; Fosfolipídeos/metabolismo; Encéfalo/diagnóstico por imagem; Criança; Pré-Escolar; Análise Mutacional de DNA; Família; Feminino; Homozigoto; Humanos; Lactente; Masculino; Mutação; Neuroimagem; Linhagem; Fenótipo; Turquia

Palavras-chave

LANDs cycle; MBOAT7 gene; epilepsy; intellectual disability; phospholipid remodelling

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fosfolipídeos / Encéfalo / Aciltransferases / Epilepsia / Proteínas de Membrana / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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