Infantile hypophosphatasia: Normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization (evidence for an intact structural gene for tissue nonspecific alkaline phosphatase)
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Histologic and ultrastructural studies on the mineralization process in hypophosphatasia
Ornoy A., Adomian G.E., Rimoin D.L. Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. Am J Med Genet. 22:1985;743-758.
Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6
Waymire K.G., Mahuren J.D., Jaje J.M., et al. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat Genet. 11:1995;45-51.
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′;-phosphate ectophosphatase: Normal and hypophosphatasia fibroblast study
Fedde K.N., Whyte M.P. Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal 5′;-phosphate ectophosphatase Normal and hypophosphatasia fibroblast study. Am J Hum Genet. 47:1990;767-775.
Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn
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Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions
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