MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

被引：0
作者：
Kristoffer Haugarvoll
Stefan Johansson
Charalampos Tzoulis
Bjørn Ivar Haukanes
Cecilie Bredrup
Gesche Neckelmann
Helge Boman
Per Morten Knappskog
Laurence A Bindoff
机构：
[1] Haukeland University Hospital,Department of Neurology
[2] University of Bergen,Department of Clinical Medicine
[3] Haukeland University Hospital,Center for Medical Genetics and Molecular Medicine
[4] University of Bergen,Department of Biomedicine
[5] Haukeland University Hospital,Department of Ophthalmology
[6] Haukeland University Hospital,Department of Radiology
来源：
Orphanet Journal of Rare Diseases | / 8卷
关键词：
gene; Seizures; Next generation sequencing; Ataxia; Peroxisomal disorders; Metabolic disorders; Tremor; Peripheral neuropathy; Pigmentary retinopathy;
D O I：
暂无
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学科分类号：
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