Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia

scientific article published on 22 August 2019

Adult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia is …
instance of (P31):
case reportQ2782326
scholarly articleQ13442814

External links are
P356DOI10.1186/S12883-019-1429-9
P932PMC publication ID6704498
P698PubMed publication ID31438897

P50authorJianping JiaQ42590698
P2093author name stringRong Chen
Fei Chen
Fen Wang
Qi Qin
Cuibai Wei
Aihong Zhou
Xiumei Zuo
Jihui Lyu
P2860cites workeIF2B-related disorders: antenatal onset and involvement of multiple organsQ24298049
Ovarian failure related to eukaryotic initiation factor 2B mutationsQ24532076
Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matterQ28218053
Vanishing white matter diseaseQ31037602
Vanishing white matter disease: a review with focus on its geneticsQ31047390
The spectrum of mutations for the diagnosis of vanishing white matter disease.Q31062093
Adult-onset vanishing white matter disease due to a novel EIF2B3 mutationQ34133006
Vanishing white matter disease in a spanish population.Q34432161
Adult-onset vanishing white matter leukoencephalopathy presenting as psychosis.Q34624402
The large spectrum of eIF2B-related diseasesQ36295600
Leukoencephalopathy With Vanishing White Matter: A ReviewQ37788513
Vanishing white matter disease in French-Canadian patients from QuebecQ38235618
Ovarioleukodystrophy due to EIF2B5 mutations.Q38960319
Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter diseaseQ41355375
Adult-onset leukoencephalopathy with vanishing white matter with a missense mutation in EIF2B5.Q44891252
Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases.Q45922760
Vanishing white matter disease: an Italian case with A638G mutation in exon 5 of EIF2B2 gene, an unusual early onset and a long course.Q46039775
The effect of genotype on the natural history of eIF2B-related leukodystrophiesQ47621860
Childhood ataxia with diffuse central nervous system hypomyelinationQ48163757
Late onset vanishing white matter diseaseQ48221378
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathyQ48431205
Leukodystrophy in patients with ovarian dysgenesisQ48718493
A new leukoencephalopathy with vanishing white matterQ48745750
Late-onset vanishing white matter disease with compound heterozygous EIF2B5 gene mutationsQ48787247
Genotype–phenotype correlation in vanishing white matter diseaseQ51535832
Case Report: Cerebral leukodystrophy and the gonadal endocrinopathy: a rare but real association.Q55315497
A Review of Infantile Vanishing White Matter Disease and A New MutationQ57498689
Genetic and Clinical Heterogeneity in eIF2B-Related DisorderQ57814452
A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutationQ57898470
Histoire naturelle des leucodystrophies avec mutation EIF2B : étude rétrospective multicentrique de 24 cas adultesQ59186938
Diffuse white matter disease in three children: an encephalopathy with unique features on magnetic resonance imaging and proton magnetic resonance spectroscopyQ72776535
Identification of novel EIF2B mutations in Chinese patients with vanishing white matter diseaseQ83214853
Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5Q83835227
Vanishing White Matter With Hepatomegaly and Hypertriglyceridemia AttacksQ84999699
Infantile onset Vanishing White Matter disease associated with a novel EIF2B5 variant, remarkably long life span, severe epilepsy, and hypopituitarismQ86901227
Acute neurological deterioration in ovarioleukodystrophy related to EIF2B mutations: pregnancy with oocyte donation is a potentially precipitating factorQ94607226
P433issue1
P921main subjectMenometrorrhagiaQ3333223
P304page(s)203
P577publication date2019-08-22
P1433published inBMC NeurologyQ15763734
P1476titleAdult-onset vanishing white matter disease with the EIF2B2 gene mutation presenting as menometrorrhagia
P478volume19

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