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(2019). https://pubmed.ncbi.nlm.nih.gov/31187503/ DOI: 10.1002/ana.25524","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Erythrocytes","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"df1d3f34-2e62-53b6-baf1-0f427009f974","evidence_kind":"source_excerpt","locator":"Lines 230-241","start_line":230,"end_line":241,"excerpt":"### b6-transport-pdxk-patient-a228t\nHomozygous A228T cases had PDXK activities of 0.8 and 1.1 pmol per dried-blood-spot punch per hour; controls ranged 2.6-14.7.\nCondition category: machinery_impairment\nnutrient_topic: Vitamin B6 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Inherited activation defects reduced enzyme output.\norganism: Homo sapiens\ntissue_or_cell_type: Erythrocytes\nexperimental_model: Human families, dried blood spots, recombinant PDXK variants.\nlimitations: Assay-specific values.\nexposure: Patient blood-spot assay.\nevidence_location: Figure 3F; Results\n[chelban2019] PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. 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