2024
Healthcare resource use associated with tumor-induced osteomalacia: a literature review
de Beur S, Dahir K, Imel E, Zanchetta M, Williams A, Li Z, Webb N, Crowe V, Johnson B, Carpenter T. Healthcare resource use associated with tumor-induced osteomalacia: a literature review. The Journal Of Clinical Endocrinology & Metabolism 2024, dgae431. PMID: 38913723, DOI: 10.1210/clinem/dgae431.Peer-Reviewed Original ResearchTumor-induced osteomalaciaHealthcare resource useResection outcomesCase reportHigher probability of tumor recurrenceSecrete fibroblast growth factor 23Probability of tumor recurrenceAssociated with tumor-induced osteomalaciaFibroblast growth factor 23Symptoms to diagnosisHealthcare resource burdenTumor recurrenceParaneoplastic syndromeTumor resectionAssociated with greater usePharmacological treatmentDisease characteristicsImaging testsPatientsMusculoskeletal symptomsTargeted literature reviewResource useOrthopedic surgeryProgressive disabilityMean time
2023
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Thompson M, Li X, Spencer-Manzon M, Andrade D, Murakami Y, Kinoshita T, Carpenter T. Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). Genes 2023, 14: 359. PMID: 36833286, PMCID: PMC9957281, DOI: 10.3390/genes14020359.Peer-Reviewed Original ResearchConceptsDigenic inheritanceDeficient CHO cell lineCell linesGPI deficiency disordersDeficient cell linesCHO cell linesBiosynthesis genesGPI attachmentMabry syndromeProtein geneStrong promoterCHO cellsUnknown significanceGenesInheritanceGene variantsAutosomal recessive inheritanceHomozygous variantNeurologic deficitsVariantsCase reportRecessive inheritanceSyndrome patientsCD55 expressionPGAP2