WebJan 1, 2024 · Elevated plasma PLP emerged as a biochemical hallmark of HPP in 1984 with our interest to identify natural substrates of TNSALP, adding to PEA [5,6] and PPi [8,9]. Several disorders of the liver or skeleton manifesting hyperphosphatasemia had been associated with low circulating levels of PLP [23,50]. WebJan 24, 2024 · This pattern is the biochemical hallmark of cobalamin C (CblC) deficiency. 7 Genetic testing revealed 2 heterozygous pathogenic variants in the MMACHC gene: c.328_331del (p.Asn110Aspfs*13) and c.482G>A (p.Arg161Gln).
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 4; ABCD4
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Patho Unit 4 Quiz Questions Flashcards Quizlet
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