{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T06:14:07Z","timestamp":1788156847883,"version":"build-2803163510"},"reference-count":10,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2026,8,2]],"date-time":"2026-08-02T00:00:00Z","timestamp":1785628800000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>A 7.5\u2010year\u2010old Pakistani girl was misdiagnosed with hypophosphatemic rickets. Progressive skeletal deformities, hepatomegaly, and renal tubular dysfunction were detected despite standard treatment. Due to the atypical findings, genetic testing was performed and confirmed the diagnosis of Hereditary tyrosinemia Type 1. Her survival without liver failure remains atypical for Pakistan.<\/jats:p>","DOI":"10.1002\/ccr3.73281","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T05:15:56Z","timestamp":1785734156000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Diagnostic Dilemma: Hypophosphatemic Rickets Unmasking Tyrosinemia Type 1: A Case Report"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-8656-5049","authenticated-orcid":false,"given":"Muhammad Wajid","family":"Siddique","sequence":"first","affiliation":[{"name":"Ameer\u2010ud\u2010din Medical College  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-0374-4340","authenticated-orcid":false,"given":"Muhammad Hanzla","family":"Shahzad","sequence":"additional","affiliation":[{"name":"Ameer\u2010ud\u2010din Medical College  Lahore Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3139-8299","authenticated-orcid":false,"given":"Mifrah Rahat","family":"Khan","sequence":"additional","affiliation":[{"name":"Division of Cardiology Duke University Hospital  Durham North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FNU","family":"Mahparah","sequence":"additional","affiliation":[{"name":"Department of Medicine Faisalabad Medical University  Faisalabad Punjab Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2157-5684","authenticated-orcid":false,"given":"Kanchan","family":"kumari","sequence":"additional","affiliation":[{"name":"Department of Medicine Liaquat National Medical College  Karachi Sindh Pakistan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-5248-0749","authenticated-orcid":false,"given":"Muhammad Husnain","family":"Ahmad","sequence":"additional","affiliation":[{"name":"St. Tentishev Asian Medical Institute  kant Kyrgyzstan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,2]]},"reference":[{"key":"e_1_2_11_2_1","unstructured":"G.Mitchell \u201cGeneReviews: Tyrosinemia Type I. Seattle: University of Washington \u201d(2023)."},{"issue":"3","key":"e_1_2_11_3_1","first-page":"183","article-title":"Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1","volume":"9","author":"Angileri F.","year":"1997","journal-title":"Human Mutation"},{"key":"e_1_2_11_4_1","article-title":"Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature","volume":"11","author":"Mameli C.","year":"2020","journal-title":"Frontiers in Endocrinology"},{"key":"e_1_2_11_5_1","article-title":"Recommendations for the Management of Tyrosinaemia Type 1","volume":"6","author":"De Laet C.","year":"2011","journal-title":"Orphanet Journal of Rare Diseases"},{"issue":"36","key":"e_1_2_11_6_1","first-page":"13638","article-title":"Hereditary Tyrosinemia Type I\u2013Associated Mutations in Fumarylacetoacetate Hydrolase Reduce Enzyme Stability and Increase Aggregation Rate","volume":"294","author":"Angileri F.","year":"2019","journal-title":"Journal of Biological Chemistry"},{"issue":"4","key":"e_1_2_11_7_1","first-page":"611","article-title":"Hypophosphatemic Rickets: Revealing Novel Control Points for Phosphate Homeostasis","volume":"42","author":"White K. E.","year":"2021","journal-title":"Endocrine Reviews"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1530\/EC-13-0103"},{"key":"e_1_2_11_9_1","unstructured":"Orphanet Report Series \u201cTyrosinemia Type I \u201d(2024)."},{"key":"e_1_2_11_10_1","unstructured":"NORD \u201cTyrosinemia Type 1 \u201d(2024)."},{"issue":"5","key":"e_1_2_11_11_1","first-page":"675","article-title":"Tyrosinemia type I: clinical presentation, diagnosis, and management","volume":"36","author":"Laet C.","year":"2013","journal-title":"Journal of Inherited Metabolic Disease"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73281","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ccr3.73281","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.73281","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T05:21:44Z","timestamp":1788153704000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.73281"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":10,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/ccr3.73281"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.73281","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"2026-07-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-29","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e73281"}}