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View article: X‐Linked Hypophosphatemia Caused by the Prevailing North American <scp> <i>PHEX</i> </scp> Variant <scp>c.*231A>G</scp> ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women
X‐Linked Hypophosphatemia Caused by the Prevailing North American <span> <i>PHEX</i> </span> Variant <span>c.*231A>G</span> ; Exon 13–15 Duplication Is Often Misdiagnosed as Ankylosing Spondylitis and Manifests in Both Men and Women Open
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 XLH i…
View article: Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults
Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults Open
Urine PEA is a promising diagnostic and confirmatory marker for HPP in patients undergoing investigation for HPP. Urine PEA also has potential use as a marker to monitor ERT compliance. Future studies are necessary to evaluate the associat…
View article: Rare Diseases That Impersonate One Another: <scp>X‐Linked</scp> Hypophosphatemia and <scp>Tumor‐Induced</scp> Osteomalacia, a Retrospective Analysis of Discriminating Features
Rare Diseases That Impersonate One Another: <span>X‐Linked</span> Hypophosphatemia and <span>Tumor‐Induced</span> Osteomalacia, a Retrospective Analysis of Discriminating Features Open
Tumor‐induced osteomalacia (TIO) is a rare paraneoplastic disease characterized by frequent fractures, bone pain, muscle weakness, and affected gait. The rarity of TIO and similar presentation to other phosphate‐wasting disorders contribut…
View article: Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia
Characterization of physical, functional, and cognitive performance in 15 adults with hypophosphatasia Open
Objective functional assessments demonstrated defects in physical functioning, including decreased ability to walk distances, slow gait speed, and diminished ability to repeatedly rise from a sitting position. In addition, participants sel…
View article: SUN-LB64 Urine Phosphoethanolamine Is an Underutilized Biomarker for Hypophosphastasia
SUN-LB64 Urine Phosphoethanolamine Is an Underutilized Biomarker for Hypophosphastasia Open
Hypophosphatasia (HPP) is a rare disease caused by a loss-of-function mutation in the ALPL gene leading to a deficiency in the tissue-non-specific isoenzyme alkaline phosphatase (ALP) and excess of extracellular inorganic pyrophosphate (PP…
View article: SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A&gt;G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype
SAT-360 Out of Sight, out of Mind: PHEX 3’-UTR C.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype Open
Title: Out of Sight, Out of Mind: PHEX 3’-UTR c.*231A>G X-Linked Hypophosphatemia in Adults: A Case Study of One Family Pedigree with a Widely Variable Phenotype X-linked hypophosphatemia (XLH) is an inherited form of hypophosphatemia t…
View article: Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders
Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders Open
Variants in the ALPL gene cause bone and dental disease in patients with and without the standard biomarker, low plasma AlkP. ALPL gene variants are more prevalent than currently reported and underdiagnosed. Gynecologic disease appears to …