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机译:严重的变体的童年与中央共济失调hypomyelination /消失的白质脑白质病EIF21B5突变有关。
INSERM UMR 384 et Federation de Genetique Humaine Auvergne, Faculte de Medecine, Clermont-Ferrand, France.;
Cerebellar Diseases; Peptide Initiation Factors; White MatterMutationUric AcidCerebral PalsyLeukoencephalopathiesAtaxiaMissense Mutation;
机译:Decreased Asialotransferrin in Cerebrospinal Fluid of Patients with Childhood-Onset Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease
机译:Autosomal Dominant Leukodystrophy and Childhood Ataxia with Central Nervous System Hypomyelination Syndrome
机译:FOAMY OLIGODENDROGLIA CONTAINING MUL1 ILAMINAR AND MULTILOCULAR STRUCTUREShyphen;ADISTINCTIVE FEATURE IN CHILDHOOD ATAXIA WITH DIFFUSE CENTRAL NERVOUS SYSTEM HYPOMYELINATION SYNDROME
机译:Leucoencefalopatiamegalencefálicacomsubstânciabrancaevanescente e cistos subcorticais megalencephalic leukoencephalopathy with disishing white matter and cystic formation