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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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| Published in: | J Clin Invest |
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| Main Authors: | , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
American Society for Clinical Investigation
1988
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| Subjects: | |
| Online Access: | 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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