{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T13:00:06Z","timestamp":1788872406684,"version":"build-2803163510"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2014,3,21]],"date-time":"2014-03-21T00:00:00Z","timestamp":1395360000000},"content-version":"vor","delay-in-days":79,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"funder":[{"DOI":"10.13039\/100001225","name":"Medical Genetics Research Fellowship Program","doi-asserted-by":"publisher","award":["NIH\/NIGMS NIH T32 GM07526"],"award-info":[{"award-number":["NIH\/NIGMS NIH T32 GM07526"]}],"id":[{"id":"10.13039\/100001225","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Baylor College of Medicine Intellectual and Developmental Disabilities Research Center","award":["HD024064"],"award-info":[{"award-number":["HD024064"]}]},{"name":"Eunice Kennedy Shriver National Institute of Child Health & Human Development","award":["NICHD P01 HD070394"],"award-info":[{"award-number":["NICHD P01 HD070394"]}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Molecular Genetics and Metabolism Reports"],"published-print":{"date-parts":[[2014]]},"DOI":"10.1016\/j.ymgmr.2014.03.004","type":"journal-article","created":{"date-parts":[[2014,4,18]],"date-time":"2014-04-18T14:28:23Z","timestamp":1397831303000},"page":"176-183","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["Lysinuric protein intolerance presenting with multiple fractures"],"prefix":"10.1016","volume":"1","author":[{"given":"Jennifer E.","family":"Posey","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsay C.","family":"Burrage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus J.","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pengfei","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew T.","family":"Hardison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah H.","family":"Elsea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaping","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alecia S.","family":"Willis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan E.","family":"Schlesinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brendan H.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ymgmr.2014.03.004_bb0005","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1038\/6815","article-title":"SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance","volume":"21","author":"Borsani","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0010","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/6809","article-title":"Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene","volume":"21","author":"Torrents","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0015","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1007\/s004310050784","article-title":"Lysinuric protein intolerance and systemic lupus erythematosus","volume":"157","author":"Kamoda","year":"1998","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0020","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1007\/BF01799838","article-title":"Immune complex disease consistent with systemic lupus erythematosus in a patient with lysinuric protein intolerance","volume":"19","author":"Parsons","year":"1996","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0025","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1007\/PL00008455","article-title":"Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister","volume":"160","author":"Aoki","year":"2001","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0030","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/S0022-3476(05)81703-2","article-title":"Lysinuric protein intolerance with chronic interstitial lung disease and pulmonary cholesterol granulomas at onset","volume":"123","author":"Kerem","year":"1993","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0035","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1148\/100.3.509","article-title":"Bone measurement in the differential diagnosis of osteopenia and osteoporosis","volume":"100","author":"Garn","year":"1971","journal-title":"Radiology"},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0040","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/gm415","article-title":"De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring\u2013Opitz syndrome","volume":"5","author":"Bainbridge","year":"2013","journal-title":"Genome Med."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0045","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1038\/ejhg.2008.145","article-title":"Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat","volume":"17","author":"Font-Llitjos","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0050","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1056\/NEJM198501313120506","article-title":"Lysinuric protein intolerance presenting as childhood osteoporosis. Clinical and skeletal response to citrulline therapy","volume":"312","author":"Carpenter","year":"1985","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0055","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/j.gene.2013.03.033","article-title":"Molecular and clinical evaluation of Turkish patients with lysinuric protein intolerance","volume":"521","author":"Guzel-Ozanturk","year":"2013","journal-title":"Gene"},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0060","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/S0022-3476(95)70552-X","article-title":"Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course","volume":"126","author":"Parenti","year":"1995","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0065","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1007\/BF00191519","article-title":"Skeletal manifestations of lysinuric protein intolerance. A follow-up study of 29 patients","volume":"22","author":"Svedstrom","year":"1993","journal-title":"Skelet. Radiol."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0070","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1007\/BF00710296","article-title":"Osteoporosis in lysinuric protein intolerance","volume":"16","author":"Parto","year":"1993","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0075","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/S0022-3476(80)80422-7","article-title":"Lysinuric protein intolerance: a two-year trial of dietary supplementation therapy with citrulline and lysine","volume":"97","author":"Rajantie","year":"1980","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0080","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.metabol.2006.09.011","article-title":"Long-term oral lysine supplementation in lysinuric protein intolerance","volume":"56","author":"Tanner","year":"2007","journal-title":"Metabolism"},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0085","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1007\/s10545-006-0236-9","article-title":"Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance","volume":"29","author":"Gomez","year":"2006","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0090","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1007\/s10545-007-0558-2","article-title":"Nutrient intake in lysinuric protein intolerance","volume":"30","author":"Tanner","year":"2007","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0095","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s10545-005-5954-x","article-title":"Increased NO production in lysinuric protein intolerance","volume":"28","author":"Mannucci","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0100","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1359\/JBMR.040716","article-title":"Isosorbide mononitrate increases bone formation and decreases bone resorption in postmenopausal women: a randomized trial","volume":"19","author":"Jamal","year":"2004","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0105","doi-asserted-by":"crossref","first-page":"8846","DOI":"10.1074\/jbc.M110.178509","article-title":"Lysyl hydroxylase 3 glucosylates galactosylhydroxylysine residues in type I collagen in osteoblast culture","volume":"286","author":"Sricholpech","year":"2011","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0110","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.ajhg.2008.09.004","article-title":"A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene","volume":"83","author":"Salo","year":"2008","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0115","doi-asserted-by":"crossref","first-page":"e1001372","DOI":"10.1371\/journal.pgen.1001372","article-title":"Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk","volume":"7","author":"Duncan","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0170","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.2249","article-title":"Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture","volume":"44","author":"Estrada","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0125","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/ng.284","article-title":"New sequence variants associated with bone mineral density","volume":"41","author":"Styrkarsdottir","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0130","doi-asserted-by":"crossref","first-page":"e1000806","DOI":"10.1371\/journal.pgen.1000806","article-title":"Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis","volume":"6","author":"Guo","year":"2010","journal-title":"PLoS Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0135","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1038\/ng.446","article-title":"Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies","volume":"41","author":"Rivadeneira","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0140","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1056\/NEJMoa0801197","article-title":"Multiple genetic loci for bone mineral density and fractures","volume":"358","author":"Styrkarsdottir","year":"2008","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0145","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1016\/j.ajhg.2009.01.025","article-title":"Genome-wide association and follow-up replication studies identified ADAMTS18 and TGFBR3 as bone mass candidate genes in different ethnic groups","volume":"84","author":"Xiong","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0150","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1093\/hmg\/ddt575","article-title":"Multistage genome-wide association meta-analyses identified two new loci for bone mineral density","volume":"23","author":"Zhang","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0155","doi-asserted-by":"crossref","first-page":"1505","DOI":"10.1016\/S0140-6736(08)60599-1","article-title":"Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study","volume":"371","author":"Richards","year":"2008","journal-title":"Lancet"},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0160","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1007\/BF01799959","article-title":"A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency","volume":"14","author":"Parini","year":"1991","journal-title":"J. Inherit. Metab. Dis."},{"key":"10.1016\/j.ymgmr.2014.03.004_bb0165","doi-asserted-by":"crossref","first-page":"2253","DOI":"10.1007\/s00198-013-2290-0","article-title":"Next-generation sequencing for disorders of low and high bone mineral density","volume":"24","author":"Sule","year":"2013","journal-title":"Osteoporos. Int."}],"container-title":["Molecular Genetics and Metabolism Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426914000275?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2214426914000275?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T12:48:06Z","timestamp":1762001286000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2214426914000275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":33,"alternative-id":["S2214426914000275"],"URL":"https:\/\/doi.org\/10.1016\/j.ymgmr.2014.03.004","relation":{},"ISSN":["2214-4269"],"issn-type":[{"value":"2214-4269","type":"print"}],"subject":[],"published":{"date-parts":[[2014]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Lysinuric protein intolerance presenting with multiple fractures","name":"articletitle","label":"Article Title"},{"value":"Molecular Genetics and Metabolism Reports","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ymgmr.2014.03.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}