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• W2192912659 abstract "We present a patient with a unique neurological phenotype with a progressive neurodegenerative phenotype. An 18-year diagnostic odyssey for the patient ended when exome sequencing identified a homozygous PEX16 mutation suggesting an atypical peroxisomal biogenesis disorder (PBD). Interestingly, the patient's peroxisomal biochemical abnormalities were subtle, such that plasma very-long-chain fatty acids initially failed to provide a diagnosis. This case suggests next-generation sequencing may be diagnostic in some atypical peroxisomal biogenesis disorders." @default.
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• W2192912659 date "2015-12-01" @default.
• W2192912659 modified "2023-10-17" @default.
• W2192912659 title "A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey" @default.
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• W2192912659 doi "https://doi.org/10.1016/j.ymgmr.2015.09.001" @default.
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