df93913826d2a6b25c395cc9d95034e8 pmc_10901938.pdf 4aa1837469c6c90f59e3dd580c6bc6e372ef2217 pmc_10901938.pdf 1346959abd8c369c4b92da252150bdd19774227b0c70c71689c515f40aa32813 pmc_10901938.pdf Title: Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia Subject: Endocrine, doi:10.1007/s12020-023-03560-y Keywords: Familial hypocalciuric hypercalcemia (FHH); primary hyperparathyroidism (PHPT); calcium disorders; calcium-sensing receptor (CaSR); CASR gene; CASR mutations Author: Queralt Asla Creator: Springer CreationDate: Tue Feb 20 05:24:40 2024 CET ModDate: Tue Feb 20 05:25:12 2024 CET Custom Metadata: no Metadata Stream: yes Tagged: no UserProperties: no Suspects: no Form: AcroForm JavaScript: no Pages: 10 Encrypted: no Page size: 595.276 x 790.866 pts Page rot: 0 File size: 1025702 bytes Optimized: yes PDF version: 1.4 name type encoding emb sub uni object ID ------------------------------------ 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and methods Destination: A3 Children: Item: Title: Patients Destination: B1 Item: Title: Data collection Destination: B2 Item: Title: Biochemical measurements Destination: B3 Item: Title: Gene amplification and sequencing Destination: B4 Item: Title: Characterization of variants and bioinformatics analysis Destination: B5 Item: Title: Statistical analysis Destination: B6 Item: Title: Results Destination: A4 Children: Item: Title: Baseline characteristics and comorbidities associated with hypercalcemia Destination: B7 Item: Title: Genetic characteristics Destination: B8 Item: Title: Biochemical and imaging characteristics Destination: B9 Item: Title: Therapeutic management Destination: B10 Item: Title: Predictive criteria for the identification of loss-of-function variants’in FHH Destination: B11 Item: Title: Discussion Destination: A5 Children: Item: Title: Compliance with ethical standards Destination: B12 Item: Title: ACKNOWLEDGMENTS Destination: M1 Item: Title: ACKNOWLEDGMENTS 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Rives Javier Suárez Verónica Ávila-Rubio Manuel Muñoz Torres Ignasi Saigí Nuria Palacios Eulàlia Urgell Susan M. Webb Mercè Fernández Josep Oriola Mireia Mora Mireia Tondo Anna Aulinas Springer US Familial hypocalciuric hypercalcemia (FHH) primary hyperparathyroidism (PHPT) calcium disorders calcium-sensing receptor (CaSR) CASR gene CASR mutations Endocrine, doi:10.1007/s12020-023-03560-y Springer 2024-02-20T09:55:12+05:30 2024-02-20T09:54:40+05:30 2024-02-20T09:55:12+05:30 True Familial hypocalciuric hypercalcemia (FHH); primary hyperparathyroidism (PHPT); calcium disorders; calcium-sensing receptor (CaSR); CASR gene; CASR mutations uuid:e3f2ab53-d11d-4ba6-8480-a8cec69ecf38 uuid:53622b8b-2855-4270-ab3c-f64b548dee38 default 1 converted uuid:a4bffa7b-6a68-42f7-9a75-4bf2bd3cf8b8 converted to PDF/A-2b pdfToolbox 2024-02-20T09:55:12+05:30 2 B http://ns.adobe.com/pdf/1.3/ pdf Adobe PDF Schema internal A name object indicating whether the document has been modified to include trapping information Trapped Text http://ns.adobe.com/pdfx/1.3/ pdfx Adobe Document Info PDF eXtension Schema internal ID of PDF/X standard GTS_PDFXVersion Text internal Conformance level of PDF/X standard GTS_PDFXConformance Text internal Company creating the PDF Company Text internal Date when document was last modified SourceModified Text http://ns.adobe.com/xap/1.0/mm/ xmpMM XMP Media Management Schema internal UUID based identifier for specific incarnation of a document InstanceID URI internal The common identifier for all versions and renditions of a document. 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