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OVARIOLEUKODYSTROPHY

Known as: Vanishing White Matter Leukodystrophy with Ovarian Failure 
National Institutes of Health

Related topics

Related topics

3 relations
EIF2B2, GLU213GLY

Broader (2)

LeukoencephalopathiesOvarian Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
AARS2‐related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases
Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), previously known as hereditary diffuse… 
2018
2018
Ovarioleukodystrophy: Vanishing white matter versus AARS2-related ovarioleukodystrophy
  • M. KnaapT. Abbink
  • Clinical neurology and neurosurgery (Dutch…
  • 2018
  • Corpus ID: 49597074
2018
2018
Epilepsy and ovarian failure: Two cases of adolescent-onset ovarioleukodystrophy
2017
2017
Ovarioleukodystrophy in Chinese Han: A case report
Review
2016
Review
2016
Ovarioleukodystrophy due to EIF2B5 mutations
Ovarioleukodystrophy—the co-occurrence of leukodystrophy and premature ovarian failure—is a rare presentation now recognised to… 
2014
2014
Identification and functional validation of new mtDNA and nuclear gene variants responsible for mitochondrial disorders
Progetto svolto presso l'Unita Operativa di Neurogenetica Molecolare presso l'Istituto Neurologico Carlo Besta, Milano. 
2011
2011
Ovarioleukodystrophy: report of a case with the c.338G>A (p.Arg113His) mutation on exon 3 and the c.896G>A (p.Arg299His) mutation on exon 7 of the EIF2B5 gene
The authors present a 28-year-old lady with progressive neurological deterioration beginning in childhood. She had clinical… 
2008
2008
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factor
Mutations in the eukaryotic translation initiation factor 2B (eIF2B) represent a heterogenous group of autosomal recessive… 
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