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Article

Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.

Neurogenetics - 1 Jul 2016

Spiegel Ronen, Shaag Avraham, Shalev Stavit, Elpeleg Orly

Abstract excerpt

Febrile-induced neurodegenerative diseases are a heterogeneous group of genetic disorders most commonly inborn errors of metabolism that result in irreversible damage involving the central nervous system. Here, we report on five siblings of consanguineous family who developed normally for the first 6-12 months of life then presented with a severe leukoencephalopathy following a trivial febrile illness. Using...

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PMID: 27122014
DOI: 10.1007/s10048-016-0483-3

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