Hypophosphatemic Rickets: A Targeted Literature Review to Characterize the Multiple Causes of Phosphate Wasting Disorders and Identify Potential Disease Biomarkers [PDF]
, 2018 Hypophosphatemic rickets is a rare, renal phosphate wasting disorder that presents various skeletal deformities. Although there are specific clinical presentations and biochemical findings used to identify hypophosphatemic rickets, there are various ...
O\u27Mara, Christopher
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The contribution of a novel PHEX gene mutation to X-linked hypophosphatemic rickets: a case report and an analysis of the gene mutation dosage effect in a rat model. [PDF]
Front Endocrinol (Lausanne), 2023 Chen X +12 more
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The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults. [PDF]
Genes (Basel), 2022 Zagari MC +9 more
europepmc +1 more source
Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type [PDF]
, 2011 Marcos Morey +28 more
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Dental and Endodontic Management in a Patient with Familial X-Linked Hypophosphatemic Rickets [PDF]
, 2022 Cássia Bocchino Seleme +6 more
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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription. [PDF]
Cell Death Dis, 2022 Gan YM +12 more
europepmc +1 more source
The use of pre-operative imaging and intraoperative parathyroid hormone level to guide surgical management of tertiary hyperparathyroidism from X-linked hypophosphatemic rickets: a case report [PDF]
, 2009 Matthew D. Neal +2 more
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Early Treatment Improves Growth and Biochemical and Radiographic Outcome in X-Linked Hypophosphatemic Rickets [PDF]
, 2003 Outi Mäkitie +5 more
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