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pro vyhledávání: '"Kathryn McCrystal, Dahir"'
Autor:
Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte
Publikováno v:
JBMR Plus, Vol 6, Iss 12, Pp n/a-n/a (2022)
ABSTRACT Inactivating mutations of the gene coding for phosphate‐regulating endopeptidase homolog X‐linked (PHEX) cause X‐linked hypophosphatemia (XLH). A novel PHEX variant, c.*231A>G; exon 13–15 duplication, has emerged as a common cause of
Externí odkaz:
https://doaj.org/article/6ada1b7fc5a14c7ea4fcadd28a3ccbf2
Autor:
Kathryn McCrystal Dahir, Margo Black, Gary S Gottesman, Erik A Imel, Steven Mumm, Cindy M Nichols, Michael P Whyte
Publikováno v:
JBMR Plus. 6
Autor:
null Kathryn McCrystal Dahir, null Margo Black, null Gary S. Gottesman, null Erik A. Imel, null Steven Mumm, null Cindy M. Nichols, null Michael P. Whyte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8520cd5b5b74d8576aee2882bea9747f
https://doi.org/10.1002/jbm4.10692/v2/response1
https://doi.org/10.1002/jbm4.10692/v2/response1
Publikováno v:
Bone. 163:116504
We investigated the utility of urine phosphoethanolamine (PEA) as a marker to aid in diagnosing and/or confirming hypophosphatasia (HPP) in adults and for monitoring patients on enzyme replacement therapy (ERT).Data was collected from seventy-eight a