Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase.

"Perinatal" hypophosphatasia is the most severe form of this inborn error of metabolism, which is characterized by deficient activity of the tissue-nonspecific (liver/bone/kidney) isoenzyme of alkaline phosphatase (ALP) (TNSALP). We report that autopsy tissue from three affected subjects,...

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Bibliografiset tiedot
Julkaisussa:J Clin Invest
Päätekijät: Whyte, M P, Mahuren, J D, Fedde, K N, Cole, F S, McCabe, E R, Coburn, S P
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society for Clinical Investigation 1988
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC329654/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/3350970/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI113440
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