Vitamin B 6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia

Pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B (B ), is elevated in the plasma of individuals with hypophosphatasia (HPP). HPP is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of ALPL, the gene that encodes the "tissue-nonspecific" is...

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Veröffentlicht in:	Bone (New York, N.Y.) N.Y.), 2021-09, Vol.150, p.116007
Hauptverfasser:	Whyte, Michael P, May, Jennifer D, McAlister, William H, Burgener, Katherine, Cortez, Samuel R, Kreienkamp, Raymond, Castro, Olivia, Verzola, Rachel, Zavala, Ana Solis, McPherson, Christopher C, Gottesman, Gary S, Ericson, Karen L, Coburn, Stephen P, Arbelaez, Ana Maria
Format:	Artikel
Sprache:	eng
Schlagworte:	Alkaline Phosphatase Female Humans Hypophosphatasia - drug therapy Hypophosphatasia - genetics Infant, Newborn Male Phosphates Pregnancy Pyridoxal Vitamin B 6 Vitamins
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