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The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever

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dc.contributor.authorÜNVER, OLCAY
dc.contributor.authorESİM BÜYÜKBAYRAK, ESRA
dc.contributor.authorGÖKDEMİR, YASEMİN
dc.contributor.authorMEMİŞOĞLU, ASLI
dc.contributor.authorsÜnver O., Çelik T., Memişoğlu A., Büyükbayrak E., Tülin Şimşek F., Öztürk G., Eser G., Saygı E. K., Gökdemir Y., Aktekin B., et al.
dc.date.accessioned2023-07-10T13:04:18Z
dc.date.accessioned2026-01-10T19:22:26Z
dc.date.available2023-07-10T13:04:18Z
dc.date.issued2022-07-01
dc.description.abstractNew molecular therapies are available for the treatment of spinal muscular atrophy (SMA) but early intervention is required. We report two cases that were diagnosed prenatally, where treatment with nusinersen was initiated within 7 h and three days respectively. The children were followed up for 13 months and almost six years respectively. Both children have developed within entirely normal centiles, indicating that initiating treatment immediately after birth, as in these cases, is essential for a good outcome.
dc.identifier.citationÜnver O., Çelik T., Memişoğlu A., Büyükbayrak E., Tülin Şimşek F., Öztürk G., Eser G., Saygı E. K., Gökdemir Y., Aktekin B., et al., "The outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever", NEUROMUSCULAR DISORDERS, cilt.32, sa.7, ss.575-577, 2022
dc.identifier.doi10.1016/j.nmd.2022.06.002
dc.identifier.endpage577
dc.identifier.issn0960-8966
dc.identifier.issue7
dc.identifier.startpage575
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dc.identifier.urihttps://hdl.handle.net/11424/291026
dc.identifier.volume32
dc.language.isoeng
dc.relation.ispartofNEUROMUSCULAR DISORDERS
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectTıp
dc.subjectDahili Tıp Bilimleri
dc.subjectNöroloji
dc.subjectYaşam Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTemel Bilimler
dc.subjectMedicine
dc.subjectInternal Medicine Sciences
dc.subjectNeurology
dc.subjectLife Sciences
dc.subjectHealth Sciences
dc.subjectNatural Sciences
dc.subjectKLİNİK NÖROLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectSİNİR BİLİMİ
dc.subjectSinirbilim ve Davranış
dc.subjectYaşam Bilimleri (LIFE)
dc.subjectCLINICAL NEUROLOGY
dc.subjectCLINICAL MEDICINE
dc.subjectClinical Medicine (MED)
dc.subjectNEUROSCIENCES
dc.subjectNEUROSCIENCE & BEHAVIOR
dc.subjectLife Sciences (LIFE)
dc.subjectDuyusal Sistemler
dc.subjectGelişimsel Sinirbilim
dc.subjectBilişsel Sinirbilim
dc.subjectHücresel ve Moleküler Sinirbilim
dc.subjectSinirbilim (çeşitli)
dc.subjectGenel Sinirbilim
dc.subjectNöroloji (klinik)
dc.subjectİnsan Bilgisayar Etkileşimi
dc.subjectFizik Bilimleri
dc.subjectSensory Systems
dc.subjectDevelopmental Neuroscience
dc.subjectCognitive Neuroscience
dc.subjectCellular and Molecular Neuroscience
dc.subjectNeuroscience (miscellaneous)
dc.subjectGeneral Neuroscience
dc.subjectNeurology (clinical)
dc.subjectHuman-Computer Interaction
dc.subjectPhysical Sciences
dc.subjectEarly treatment
dc.subjectSpinal muscular atrophy
dc.subjectTHERAPY
dc.subjectEarly treatment
dc.subjectSpinal muscular atrophy
dc.titleThe outcome of two SMA cases treated with nusinersen at seven hours and at three days of life: the earliest ever
dc.typearticle
dspace.entity.typePublication

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