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Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia

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dc.contributor.authorÖZEN, AHMET OĞUZHAN
dc.contributor.authorAYDINER, ELİF
dc.contributor.authorBARIŞ, SAFA
dc.contributor.authorsKiykim, Ayca; Garncarz, Wojciech; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kiykim, Ertugrul; Yesil, Gozde; Boztug, Kaan; Baris, Safa
dc.date.accessioned2022-03-15T12:00:52Z
dc.date.accessioned2026-01-11T14:11:24Z
dc.date.available2022-03-15T12:00:52Z
dc.date.issued2016
dc.identifier.doi10.1016/j.clim.2016.02.008
dc.identifier.issn1521-7035
dc.identifier.pubmedPMID: 26916670
dc.identifier.urihttps://hdl.handle.net/11424/252833
dc.language.isoeng
dc.relation.ispartofClinical Immunology (Orlando, Fla.)
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectFemale
dc.subjectHumans
dc.subjectChild, Preschool
dc.subjectMutation
dc.subjectNervous System Diseases
dc.subjectEpilepsy
dc.subjectCataract
dc.subjectMetabolism, Inborn Errors
dc.subjectNeutropenia
dc.subjectMicrocephaly
dc.subject3-Methylglutaconic acid
dc.subjectCLPB
dc.subjectEndopeptidase Clp
dc.subjectMuscle Hypertonia
dc.subjectSevere congenital neutropenia
dc.titleNovel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia
dc.typearticle
dspace.entity.typePublication
oaire.citation.endPage3
oaire.citation.startPage1
oaire.citation.titleClinical Immunology (Orlando, Fla.)

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