{"id":"https://openalex.org/W7223989313","doi":"https://doi.org/10.1093/jbmr/zjag151","title":"Long-Term Clinical Course of Hypoparathyroidism and Pseudohypoparathyroidism in Children and Adolescents: Retrospective Observational Cohort Study","display_name":"Long-Term Clinical Course of Hypoparathyroidism and Pseudohypoparathyroidism in Children and Adolescents: Retrospective Observational Cohort Study","publication_year":2026,"publication_date":"2026-10-27","ids":{"openalex":"https://openalex.org/W7223989313","doi":"https://doi.org/10.1093/jbmr/zjag151","pmid":"https://pubmed.ncbi.nlm.nih.gov/42937219"},"language":"en","primary_location":{"id":"doi:10.1093/jbmr/zjag151","doi":"https://doi.org/10.1093/jbmr/zjag151","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jbmr/zjag151","pdf_url":"https://academic.oup.com/jbmr/advance-article-pdf/doi/10.1093/jbmr/zjag151/72535553/zjag151.pdf","source":{"id":"https://openalex.org/S128199769","display_name":"Journal of Bone and Mineral Research","issn_l":"0884-0431","issn":["0884-0431","1523-4681"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Bone and Mineral Research","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://academic.oup.com/jbmr/advance-article-pdf/doi/10.1093/jbmr/zjag151/72535553/zjag151.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5025782541","display_name":"Aashima Dabas","orcid":"https://orcid.org/0000-0002-1768-060X","observed_orcids":["https://orcid.org/0000-0002-1768-060X"]},"institutions":[{"id":"https://openalex.org/I39190216","display_name":"Maulana Azad Medical College","ror":"https://ror.org/03dwx1z96","country_code":"IN","type":"education","lineage":["https://openalex.org/I110166357","https://openalex.org/I39190216"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Aashima Dabas","raw_affiliation_strings":["Maulana Azad Medical College , New Delhi ,"],"raw_orcid":"https://orcid.org/0000-0002-1768-060X","affiliations":[{"raw_affiliation_string":"Maulana Azad Medical College , New Delhi ,","institution_ids":["https://openalex.org/I39190216"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5159879785","display_name":"Ashmit Rao","orcid":"https://orcid.org/0009-0008-4433-8704","observed_orcids":["https://orcid.org/0009-0008-4433-8704"]},"institutions":[{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ashmit Rao","raw_affiliation_strings":["Department of Computer Science, University of Oxford , Oxford ,"],"raw_orcid":"https://orcid.org/0009-0008-4433-8704","affiliations":[{"raw_affiliation_string":"Department of Computer Science, University of Oxford , Oxford ,","institution_ids":["https://openalex.org/I40120149"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036483342","display_name":"Amit Maniyar","orcid":"https://orcid.org/0000-0001-6090-5416","observed_orcids":["https://orcid.org/0000-0001-6090-5416"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"A F Maniyar","raw_affiliation_strings":["Department of Paediatric Radiology, Manchester University NHS Foundation Trust , Manchester ,"],"raw_orcid":"https://orcid.org/0000-0001-6090-5416","affiliations":[{"raw_affiliation_string":"Department of Paediatric Radiology, Manchester University NHS Foundation Trust , Manchester ,","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073457849","display_name":"Zulf Mughal M","orcid":"https://orcid.org/0000-0002-8603-5663","observed_orcids":["https://orcid.org/0000-0002-8603-5663"]},"institutions":[{"id":"https://openalex.org/I2800866514","display_name":"Al Jalila Foundation","ror":"https://ror.org/03zpd7f57","country_code":"AE","type":"nonprofit","lineage":["https://openalex.org/I2800866514"]}],"countries":["AE"],"is_corresponding":false,"raw_author_name":"M Zulf Mughal","raw_affiliation_strings":["Department of Paediatric Endocrinology, Al Jalila Children\u2019s Hospital , Dubai ,"],"raw_orcid":"https://orcid.org/0000-0002-8603-5663","affiliations":[{"raw_affiliation_string":"Department of Paediatric Endocrinology, Al Jalila Children\u2019s Hospital , Dubai ,","institution_ids":["https://openalex.org/I2800866514"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036532674","display_name":"Amish Chinoy","orcid":"https://orcid.org/0000-0002-8991-1614","observed_orcids":["https://orcid.org/0000-0002-8991-1614"]},"institutions":[{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Amish Chinoy","raw_affiliation_strings":["Department of Paediatric Endocrinology, Manchester University NHS Foundation Trust , Manchester ,"],"raw_orcid":"https://orcid.org/0000-0002-8991-1614","affiliations":[{"raw_affiliation_string":"Department of Paediatric Endocrinology, Manchester University NHS Foundation Trust , Manchester ,","institution_ids":["https://openalex.org/I4210092852"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5079265130","display_name":"Raja Padidela","orcid":"https://orcid.org/0000-0002-3350-9896","observed_orcids":["https://orcid.org/0000-0002-3350-9896"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]},{"id":"https://openalex.org/I4210092852","display_name":"Manchester University NHS Foundation Trust","ror":"https://ror.org/00he80998","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Raja Padidela","raw_affiliation_strings":["Department of Paediatric Endocrinology, Manchester University NHS Foundation Trust , Manchester ,","Faculty of Biology, Medicine and Health, University of Manchester , Manchester ,"],"raw_orcid":"https://orcid.org/0000-0002-3350-9896","affiliations":[{"raw_affiliation_string":"Department of Paediatric Endocrinology, Manchester University NHS Foundation Trust , Manchester ,","institution_ids":["https://openalex.org/I4210092852"]},{"raw_affiliation_string":"Faculty of Biology, Medicine and Health, University of Manchester , Manchester ,","institution_ids":["https://openalex.org/I28407311"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5079265130"],"corresponding_institution_ids":["https://openalex.org/I28407311","https://openalex.org/I4210092852"],"apc_list":{"value":3780,"currency":"USD","value_usd":3780},"apc_paid":{"value":3780,"currency":"USD","value_usd":3780},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.83845055,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10516","display_name":"Parathyroid Disorders and Treatments","score":0.9970999956130981,"subfield":{"id":"https://openalex.org/subfields/2727","display_name":"Nephrology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10277","display_name":"Vitamin D Research Studies","score":0.0005000000237487257,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11728","display_name":"Thyroid and Parathyroid Surgery","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/hypoparathyroidism","display_name":"hypoparathyroidism","score":0.9909999966621399},{"id":"https://openalex.org/keywords/pseudohypoparathyroidism","display_name":"pseudohypoparathyroidism","score":0.9890000224113464},{"id":"https://openalex.org/keywords/nephrocalcinosis","display_name":"nephrocalcinosis","score":0.8529999852180481},{"id":"https://openalex.org/keywords/renal-outcomes","display_name":"renal outcomes","score":0.6769999861717224},{"id":"https://openalex.org/keywords/active-vitamin-d-analogs","display_name":"active vitamin D analogs","score":0.7960000038146973},{"id":"https://openalex.org/keywords/calcium-supplementation","display_name":"calcium supplementation","score":0.7820000052452087},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.6880000233650208},{"id":"https://openalex.org/keywords/22q11-2-deletion","display_name":"22q11.2 deletion","score":0.8289999961853027},{"id":"https://openalex.org/keywords/sanjad-sakati-syndrome","display_name":"Sanjad-Sakati syndrome","score":0.8759999871253967},{"id":"https://openalex.org/keywords/gcm2","display_name":"GCM2","score":0.6700000166893005},{"id":"https://openalex.org/keywords/calcium-phosphate-product","display_name":"calcium-phosphate product","score":0.6859999895095825},{"id":"https://openalex.org/keywords/children-and-adolescents","display_name":"children and adolescents","score":0.8220000267028809},{"id":"https://openalex.org/keywords/estimated-glomerular-filtration-rate","display_name":"estimated glomerular filtration rate","score":0.7269999980926514}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8424999713897705},{"id":"https://openalex.org/C2780356894","wikidata":"https://www.wikidata.org/wiki/Q819207","display_name":"Pseudohypoparathyroidism","level":4,"score":0.8378000259399414},{"id":"https://openalex.org/C2775941721","wikidata":"https://www.wikidata.org/wiki/Q1586088","display_name":"Hypoparathyroidism","level":2,"score":0.8065000176429749},{"id":"https://openalex.org/C2781145721","wikidata":"https://www.wikidata.org/wiki/Q1527711","display_name":"Nephrocalcinosis","level":3,"score":0.7258999943733215},{"id":"https://openalex.org/C2781208988","wikidata":"https://www.wikidata.org/wiki/Q202476","display_name":"Parathyroid hormone","level":3,"score":0.5921000242233276},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.5503000020980835},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.48190000653266907},{"id":"https://openalex.org/C167135981","wikidata":"https://www.wikidata.org/wiki/Q2146302","display_name":"Retrospective cohort study","level":2,"score":0.4456999897956848},{"id":"https://openalex.org/C2778812048","wikidata":"https://www.wikidata.org/wiki/Q936382","display_name":"Hypocalcaemia","level":3,"score":0.43389999866485596},{"id":"https://openalex.org/C201903717","wikidata":"https://www.wikidata.org/wiki/Q1778788","display_name":"Cohort study","level":2,"score":0.40860000252723694},{"id":"https://openalex.org/C124490489","wikidata":"https://www.wikidata.org/wiki/Q7936963","display_name":"Vitamin D and neurology","level":2,"score":0.3774000108242035},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.365200012922287},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.3434999883174896},{"id":"https://openalex.org/C2776183862","wikidata":"https://www.wikidata.org/wiki/Q3771629","display_name":"Hypomagnesemia","level":3,"score":0.3418999910354614},{"id":"https://openalex.org/C159641895","wikidata":"https://www.wikidata.org/wiki/Q108377937","display_name":"Renal function","level":2,"score":0.31949999928474426},{"id":"https://openalex.org/C23131810","wikidata":"https://www.wikidata.org/wiki/Q818574","display_name":"Observational study","level":2,"score":0.313400000333786},{"id":"https://openalex.org/C2777895361","wikidata":"https://www.wikidata.org/wiki/Q1758614","display_name":"Longitudinal study","level":2,"score":0.310699999332428},{"id":"https://openalex.org/C2776036575","wikidata":"https://www.wikidata.org/wiki/Q1641062","display_name":"Hyperphosphatemia","level":3,"score":0.3018999993801117},{"id":"https://openalex.org/C986699","wikidata":"https://www.wikidata.org/wiki/Q7939","display_name":"El Ni\u00f1o","level":2,"score":0.2939999997615814},{"id":"https://openalex.org/C2777724520","wikidata":"https://www.wikidata.org/wiki/Q2526358","display_name":"Hypercalciuria","level":3,"score":0.27970001101493835},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.2728999853134155},{"id":"https://openalex.org/C126894567","wikidata":"https://www.wikidata.org/wiki/Q105650","display_name":"Urology","level":1,"score":0.26969999074935913},{"id":"https://openalex.org/C90924648","wikidata":"https://www.wikidata.org/wiki/Q120569","display_name":"Gastroenterology","level":1,"score":0.26829999685287476},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.2655999958515167},{"id":"https://openalex.org/C2777616141","wikidata":"https://www.wikidata.org/wiki/Q790971","display_name":"Bartter syndrome","level":3,"score":0.26030001044273376},{"id":"https://openalex.org/C2775945674","wikidata":"https://www.wikidata.org/wiki/Q1344835","display_name":"Hyperparathyroidism","level":2,"score":0.26019999384880066},{"id":"https://openalex.org/C2780309369","wikidata":"https://www.wikidata.org/wiki/Q933382","display_name":"Calcification","level":2,"score":0.25679999589920044},{"id":"https://openalex.org/C2776697488","wikidata":"https://www.wikidata.org/wiki/Q4210589","display_name":"Urinary calcium","level":3,"score":0.25369998812675476}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1093/jbmr/zjag151","doi":"https://doi.org/10.1093/jbmr/zjag151","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jbmr/zjag151","pdf_url":"https://academic.oup.com/jbmr/advance-article-pdf/doi/10.1093/jbmr/zjag151/72535553/zjag151.pdf","source":{"id":"https://openalex.org/S128199769","display_name":"Journal of Bone and Mineral Research","issn_l":"0884-0431","issn":["0884-0431","1523-4681"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Bone and Mineral Research","raw_type":"journal-article"},{"id":"pmid:42937219","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42937219","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research","raw_type":"Journal Article"},{"id":"pmh:oai:pure.atira.dk:openaire_cris_publications/8068470b-e502-4101-815f-d799dbdb42fd","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/8068470b-e502-4101-815f-d799dbdb42fd","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dabas, A, Rao, A, Maniyar, A F, Mughal, M Z, Chinoy, A & Padidela, R 2026, 'Long-Term Clinical Course of Hypoparathyroidism and Pseudohypoparathyroidism in Children and Adolescents: Retrospective Observational Cohort Study', Journal of Bone Mineral Research. https://doi.org/10.1093/jbmr/zjag151","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:pure.atira.dk:publications/8068470b-e502-4101-815f-d799dbdb42fd","doi":null,"is_oa":true,"landing_page_url":"https://research.manchester.ac.uk/en/publications/8068470b-e502-4101-815f-d799dbdb42fd","pdf_url":null,"source":{"id":"https://openalex.org/S4306400662","display_name":"Research Explorer (The University of Manchester)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I28407311","host_organization_name":"University of Manchester","host_organization_lineage":["https://openalex.org/I28407311"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Dabas, A, Rao, A, Maniyar, A F, Mughal, M Z, Chinoy, A & Padidela, R 2026, 'Long-Term Clinical Course of Hypoparathyroidism and Pseudohypoparathyroidism in Children and Adolescents: Retrospective Observational Cohort Study', Journal of Bone Mineral Research.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":{"id":"doi:10.1093/jbmr/zjag151","doi":"https://doi.org/10.1093/jbmr/zjag151","is_oa":true,"landing_page_url":"https://doi.org/10.1093/jbmr/zjag151","pdf_url":"https://academic.oup.com/jbmr/advance-article-pdf/doi/10.1093/jbmr/zjag151/72535553/zjag151.pdf","source":{"id":"https://openalex.org/S128199769","display_name":"Journal of Bone and Mineral Research","issn_l":"0884-0431","issn":["0884-0431","1523-4681"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-3","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Bone and Mineral Research","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223989313.pdf","grobid_xml":"https://content.openalex.org/works/W7223989313.grobid-xml"},"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W7161793335","https://openalex.org/W2989846718","https://openalex.org/W2098693753","https://openalex.org/W2985715769","https://openalex.org/W7171778392","https://openalex.org/W1941670329","https://openalex.org/W2075775765","https://openalex.org/W2418618888","https://openalex.org/W2997035777","https://openalex.org/W7054463877"],"abstract_inverted_index":{"Hypoparathyroidism":[0,161],"and":[1,31,43,56,69,90,107,115,125,146,154,253],"pseudohypoparathyroidism":[2],"(PHP/iPPSD)":[3],"are":[4],"rare":[5],"pediatric":[6],"disorders":[7],"of":[8,102,159,185,210,243],"parathyroid":[9],"hormone":[10],"deficiency":[11],"or":[12],"resistance,":[13],"with":[14,99,128,167,183,207,223,241,275,282],"limited":[15,70,283],"longitudinal":[16],"outcome":[17],"data":[18],"after":[19],"childhood":[20],"presentation.":[21],"We":[22,38],"assessed":[23,79,87],"presentation,":[24],"treatment":[25],"exposure,":[26],"biochemical":[27,76,280],"control,":[28],"genotype-phenotype":[29],"associations,":[30],"renal":[32,84,258,272],"outcomes":[33,85],"in":[34,122,163,173,187,192,230],"a":[35,264],"single-center":[36],"cohort.":[37],"retrospectively":[39],"studied":[40],"120":[41],"children":[42],"adolescents":[44],"managed":[45],"from":[46],"2003":[47],"to":[48],"2025.":[49],"Diagnoses":[50],"were":[51,86],"based":[52],"on":[53],"clinical,":[54],"biochemical,":[55],"genetic":[57],"findings.":[58],"Treatment":[59],"used":[60],"active":[61],"vitamin":[62],"D":[63],"analogs":[64],"(aVD),":[65],"dietary":[66,276],"calcium":[67,73,177,236,286],"optimization,":[68],"long-term":[71,284],"oral":[72,285],"supplementation.":[74],"Longitudinal":[75],"control":[77,281],"was":[78,126,151,178,197,228,237],"using":[80],"time-weighted":[81],"averages":[82],"(TWA);":[83],"by":[88],"ultrasonography":[89],"estimated":[91],"glomerular":[92],"filtration":[93],"rate.":[94],"Eighty":[95],"patients":[96,156,166,193,204],"had":[97,157,205,263],"hypoparathyroidism,":[98,251],"754":[100],"patient-years":[101,209],"follow-up.":[103,211],"GCM2,":[104],"CASR":[105],"variants":[106,114],"Sanjad-Sakati":[108],"syndrome":[109],"presented":[110,118,213],"earliest,":[111],"whereas":[112],"AIRE":[113],"gene-negative":[116],"cases":[117],"later.":[119],"Nephrocalcinosis":[120],"occurred":[121],"23/80":[123],"(28.8%)":[124],"associated":[127],"severe":[129],"genotypes,":[130],"younger":[131],"age":[132,254],"at":[133,255],"diagnosis,":[134],"lower":[135],"TWA-adjusted":[136,176,235],"calcium,":[137],"more":[138],"time":[139,186,244],"below":[140],"target,":[141],"higher":[142,147],"TWA":[143,189],"urine":[144],"calcium/creatinine,":[145],"aVD":[148,274],"dose/kg.":[149],"eGFR":[150],"generally":[152],"preserved,":[153],"three":[155],"resolution":[158],"nephrocalcinosis.":[160],"resolved":[162],"11/26":[164],"(42%)":[165],"22q11.2":[168,261],"deletion,":[169],"especially":[170],"when":[171],"diagnosed":[172],"infancy.":[174],"Median":[175,234],"2.12":[179],"mmol/L":[180,239],"(IQR":[181],"2.03-2.21),":[182],"63%":[184],"target;":[188],"calcium-phosphate":[190],"product":[191],"aged":[194],"\u226512":[195],"years":[196],"3.52":[198],"mmol2/L2":[199],"(3.11-3.98;":[200],"target":[201],"<4.4).":[202],"Forty":[203],"PHP/iPPSD,":[206],"429":[208],"PHP1A/iPPSD2":[212],"earlier":[214],"than":[215],"PHP1B/iPPSD3,":[216],"while":[217,260],"epigenetic":[218],"PHP1B/iPPSD3":[219],"often":[220,266],"overlapped":[221],"clinically":[222],"PHP1A-like":[224],"features.":[225],"No":[226],"nephrocalcinosis":[227],"seen":[229],"19":[231],"imaged":[232],"patients.":[233],"2.21":[238],"(2.16-2.26),":[240],"92%":[242],"within":[245],"the":[246],"acceptable":[247],"range.":[248],"In":[249],"childhood-onset":[250],"genotype":[252],"diagnosis":[256],"influenced":[257],"risk,":[259],"deletion":[262],"milder,":[265],"resolving":[267],"course.":[268],"PHP/iPPSD":[269],"showed":[270],"favorable":[271],"safety.":[273],"counseling":[277],"supported":[278],"sustained":[279],"use.":[287]},"counts_by_year":[],"updated_date":"2026-11-05T12:25:35.769452","created_date":"2026-10-28T00:00:00"}