{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T17:23:16Z","timestamp":1785259396793,"version":"3.55.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2001,9,1]],"date-time":"2001-09-01T00:00:00Z","timestamp":999302400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>In 1948, Dr. John Campbell Rathbun characterized the disorder \u201chypophosphatasia\u201d when he reported paradoxically low levels of alkaline phosphatase (ALP) activity in blood and in several tissues from an infant who died with rickets and epilepsy, which seemed to reflect \u201ca new developmental anomaly.\u201d Hypophosphatasia is now recognized to be an inborn error of metabolism featuring deficient activity of the tissue-nonspecific isoenzyme of ALP (TNSALP) caused by deactivating mutations in TNSALP. Here, we show, more than 50 years after Rathbun's case report, that analysis of the parental DNA indicates compound heterozygosity involving two missense mutations (G340A and A881C) in TNSALP caused the death of Rathbun's patient.<\/jats:p>","DOI":"10.1359\/jbmr.2001.16.9.1724","type":"journal-article","created":{"date-parts":[[2006,4,26]],"date-time":"2006-04-26T20:52:32Z","timestamp":1146084752000},"page":"1724-1727","source":"Crossref","is-referenced-by-count":31,"title":["Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case"],"prefix":"10.1093","volume":"16","author":[{"given":"Steven","family":"Mumm","sequence":"first","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"},{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Jones","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Finnegan","sequence":"additional","affiliation":[{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael P.","family":"Whyte","sequence":"additional","affiliation":[{"name":"Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children, St. Louis, Missouri, USA"},{"name":"Division of Bone and Mineral Diseases, Washington University School of Medicine at Barnes-Jewish Hospital Research Institute, St. Louis, Missouri, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024020714123607000_bib1","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1001\/archpedi.1948.02030020840003","article-title":"Hypophosphatasia: A new developmental anomaly","volume":"75","author":"Rathbun","year":"1948","journal-title":"Am J Dis Child"},{"key":"2024020714123607000_bib2","first-page":"5313","volume-title":"The Metabolic & Molecular Bases of Inherited Disease","author":"Whyte","year":"2001","edition":"8th ed."},{"key":"2024020714123607000_bib3","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/0002-9343(57)90124-9","article-title":"Hypophosphatasia","volume":"22","author":"Fraser","year":"1957","journal-title":"Am J Med"},{"key":"2024020714123607000_bib4","volume-title":"Principles of Bone Biology","author":"Whyte","year":"2002","edition":"2nd 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