An Ethyl-Nitrosourea-Induced Point Mutation in Phex Causes Exon Skipping, X-Linked Hypophosphatemia, and Rickets [PDF]
, 2002 Marina R. Carpinelli +9 more
openalex +1 more source
A case and review of fibroblast growth factor-23-mediated hypophosphatemic osteomalacia in the absence of pathogenic <i>PHEX</i> variants. [PDF]
JBMR PlusPark YA +4 more
europepmc +1 more source
SAT-373 A Case of X Linked Hypophosphatemic Rickets Due to DE Novo Phex Gene Mutation [PDF]
, 2020 Ahmed Badran, Renee Bargman
openalex +1 more source
Burosumab in adults with X-linked hypophosphatemia: real-world experience from a retrospective study in Sydney. [PDF]
JBMR PlusKumar S +4 more
europepmc +1 more source
Pyrophosphate dysregulation and impaired FGF23/FGFR signaling contributes to impaired matrix mineralization in bone marrow stromal cultures from sickle cell disease mice. [PDF]
Biochem Biophys Res CommunXiao L, Hurley MM.
europepmc +1 more source
<p>PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country</p> [PDF]
, 2020 Jessica María Forero-Delgadillo +6 more
openalex +1 more source
Hypophosphatemia across the lifespan. [PDF]
JBMR PlusHerath M, Prince R, Munns CF, Kim A.
europepmc +1 more source
Reclassification of Hypophosphatemic Bone Disease as X-Linked Hypophosphatemia Following Genetic Testing in Adulthood. [PDF]
AACE Endocrinol DiabetesKamel L +4 more
europepmc +1 more source
Characterization of PHEX endopeptidase catalytic activity: identification of parathyroid-hormone-related peptide107–139 as a substrate and osteocalcin, PPi and phosphate as inhibitors [PDF]
, 2001 Guy Boileau +3 more
openalex +1 more source