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- W3175822006 abstract "X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder responsible of accumulation of Very Long Chain Fatty Acids (VLCFAs) which accumulate in the central nervous system, adrenal cortex and testes. Various mutations have been identified, the X-ALD mutation database catalogs 2707 (last updated on 04-03-2019) with 61% of missense mutations. This paper reports on a first case of AMN with R152C mutation in ABCD1 gene." @default.
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- W3175822006 date "2021-01-01" @default.
- W3175822006 modified "2023-09-23" @default.
- W3175822006 title "A First Case of Adrenomyeloneuropathy with Mutation R152C: A Case Report with Literature Review" @default.
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- W3175822006 doi "https://doi.org/10.37421/2165-7920.2021.11.1445" @default.
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