{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T00:33:14Z","timestamp":1768869194281,"version":"3.49.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T00:00:00Z","timestamp":1500422400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T00:00:00Z","timestamp":1500422400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007305","name":"Maternal and Child Health Bureau","doi-asserted-by":"publisher","award":["H46MC24090"],"award-info":[{"award-number":["H46MC24090"]}],"id":[{"id":"10.13039\/100007305","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13023-017-0684-3","type":"journal-article","created":{"date-parts":[[2017,7,19]],"date-time":"2017-07-19T15:36:08Z","timestamp":1500478568000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders"],"prefix":"10.1186","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8601-2023","authenticated-orcid":false,"given":"Yetsa","family":"Osara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn","family":"Coakley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aishwarya","family":"Devarajan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rani H.","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,7,19]]},"reference":[{"key":"684_CR1","doi-asserted-by":"publisher","first-page":"972","DOI":"10.1542\/peds.108.4.972","volume":"108","author":"National Institutes of Health Consensus Development Conference Statemen","year":"2001","unstructured":"National Institutes of Health Consensus Development Conference Statemen. phenylketonuria: screening and management, October 16\u201318, 2000. Pediatrics. 2001;108:972\u201382.","journal-title":"Pediatrics"},{"key":"684_CR2","doi-asserted-by":"publisher","first-page":"264","DOI":"10.1016\/j.ymgme.2012.04.016","volume":"106","author":"M Zimmermann","year":"2012","unstructured":"Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thony B, Blau N, Baumgartner MR, Rohrbach M. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Mol Genet Metab. 2012;106:264\u20138.","journal-title":"Mol Genet Metab"},{"key":"684_CR3","doi-asserted-by":"crossref","unstructured":"Newborn screening: toward a uniform screening panel and system--executive summary. Pediatrics. 2006;117:S296-307.","DOI":"10.1542\/peds.2005-2633I"},{"key":"684_CR4","unstructured":"Southeast Regional Newborn Screening and Genetics Collaborative. \n                    http:\/\/southeastgenetics.org\/about.php\n                    \n                  ."},{"key":"684_CR5","doi-asserted-by":"publisher","first-page":"Rrn1309","DOI":"10.1371\/currents.RRN1309","volume":"4","author":"V Rangel","year":"2012","unstructured":"Rangel V, Martin AS, Peay HL. DuchenneConnect registry report. PLoS Curr. 2012;4:Rrn1309.","journal-title":"PLoS Curr"},{"key":"684_CR6","first-page":"901","volume":"51","author":"H Nakamura","year":"2011","unstructured":"Nakamura H, Kawai M. [Registry of muscular dystrophy (remudy). construction of the patient self-report registry and collaboration with overseas network]. rinsho shinkeigaku. Clin Neurol. 2011;51:901\u20132.","journal-title":"Clin Neurol"},{"key":"684_CR7","unstructured":"Newborn screening: toward a uniform screening panel and system. Genet. 2006;8(Suppl 1):1s-252s."},{"issue":"4","key":"684_CR8","doi-asserted-by":"publisher","first-page":"566","DOI":"10.1016\/j.ymgme.2012.01.006","volume":"105","author":"MJ De Groot","year":"2012","unstructured":"De Groot MJ, Hoeksma M, van Rijn M, Slart RH, van Spronsen FJ. Relationships between lumbar bone mineral density and biochemical parameters in phenylketonuria patients. Mol Genet Metab. 2012;105(4):566\u201370. doi:10.1016\/j.ymgme.2012.01.006.","journal-title":"Mol Genet Metab"},{"issue":"6","key":"684_CR9","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1515\/jpem-2016-0308","volume":"30","author":"K Wang","year":"2017","unstructured":"Wang K, Shen M, Li H, Li X, He C. Reduced bone mineral density in Chinese children with phenylketonuria. J Pediatr Endocrinol Metab. 2017;30(6):651\u20136. doi:\n                    10.1515\/jpem-2016-0308\n                    \n                  .","journal-title":"J Pediatr Endocrinol Metab"},{"key":"684_CR10","unstructured":"Learning about phenulketonuria (August 21, 2014). Retrieved from \n                    https:\/\/www.genome.gov\/25020037\n                    \n                  ."},{"key":"684_CR11","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1016\/j.ahj.2010.04.012","volume":"160","author":"BR Shah","year":"2010","unstructured":"Shah BR, Drozda J, Peterson ED. Leveraging observational registries to inform comparative effectiveness research. Am Heart J. 2010;160:8\u201315.","journal-title":"Am Heart J"},{"key":"684_CR12","doi-asserted-by":"publisher","first-page":"425","DOI":"10.1007\/s10545-011-9412-7","volume":"35","author":"AB Mendes","year":"2012","unstructured":"Mendes AB, Martins FF, Cruz WM, da Silva LE, Abadesso CB, Boaventura GT. Bone development in children and adolescents with PKU. J Inherit Metab Dis. 2012;35:425\u201330.","journal-title":"J Inherit Metab Dis"},{"key":"684_CR13","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1007\/s00774-011-0276-6","volume":"29","author":"H Nagasaka","year":"2011","unstructured":"Nagasaka H, Tsukahara H, Takatani T, Sanayama Y, Takayanagi M, Ohura T, Sakamoto O, Ito T, Wada M, Yoshino M, et al. Cross-sectional study of bone metabolism with nutrition in adult classical phenylketonuric patients diagnosed by neonatal screening. J Bone Miner Metab. 2011;29:737\u201343.","journal-title":"J Bone Miner Metab"},{"key":"684_CR14","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1016\/j.ymgme.2012.12.008","volume":"108","author":"A Miras","year":"2013","unstructured":"Miras A, Boveda MD, Leis MR, Mera A, Aldamiz-Echevarria L, Fernandez-Lorenzo JR, Fraga JM, Couce ML. Risk factors for developing mineral bone disease in phenylketonuric patients. Mol Genet Metab. 2013;108:149\u201354.","journal-title":"Mol Genet Metab"},{"key":"684_CR15","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1093\/ajcn\/55.5.997","volume":"55","author":"MP McMurry","year":"1992","unstructured":"McMurry MP, Chan GM, Leonard CO, Ernst SL. Bone mineral status in children with phenylketonuria--relationship to nutritional intake and phenylalanine control. Am J Clin Nutr. 1992;55:997\u20131004.","journal-title":"Am J Clin Nutr"},{"issue":"Suppl 1","key":"684_CR16","doi-asserted-by":"publisher","first-page":"S148","DOI":"10.1007\/PL00014234","volume":"155","author":"L Hillman","year":"1996","unstructured":"Hillman L, Schlotzhauer C, Lee D, Grasela J, Witter S, Allen S, Hillman R. Decreased bone mineralization in children with phenylketonuria under treatment. Eur J Pediatr. 1996;155(Suppl 1):S148\u201352.","journal-title":"Eur J Pediatr"},{"key":"684_CR17","doi-asserted-by":"publisher","first-page":"72","DOI":"10.1016\/j.ymgme.2016.04.008","volume":"118","author":"RH Singh","year":"2016","unstructured":"Singh RH, Cunningham AC, Mofidi S, Douglas TD, Frazier DM, Hook DG, Jeffers L, McCune H, Moseley KD, Ogata B, et al. Updated, web-based nutrition management guideline for PKU: an evidence and consensus based approach. Mol Genet Metab. 2016;118:72\u201383.","journal-title":"Mol Genet Metab"},{"key":"684_CR18","doi-asserted-by":"publisher","first-page":"82","DOI":"10.2310\/6620.2007.06034","volume":"18","author":"JM Hanifin","year":"2007","unstructured":"Hanifin JM, Reed ML. A population-based survey of eczema prevalence in the United States. Dermatitis. 2007;18:82\u201391.","journal-title":"Dermatitis"},{"key":"684_CR19","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/jid.2010.251","volume":"131","author":"TE Shaw","year":"2011","unstructured":"Shaw TE, Currie GP, Koudelka CW, Simpson EL. Eczema prevalence in the united states: data from the 2003 national survey of Children\u2019s health. J Invest Dermatol. 2011;131:67\u201373.","journal-title":"J Invest Dermatol"},{"key":"684_CR20","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1046\/j.1365-4362.1998.00603.x","volume":"37","author":"KH Schulpis","year":"1998","unstructured":"Schulpis KH, Nyalala JO, Papakonstantinou ED, Leondiadis L, Livaniou E, Ithakisios D, Georgala S. Biotin recycling impairment in phenylketonuric children with seborrheic dermatitis. Int J Dermatol. 1998;37:918\u201321.","journal-title":"Int J Dermatol"},{"key":"684_CR21","doi-asserted-by":"publisher","first-page":"671","DOI":"10.1111\/j.1398-9995.2010.02332.x","volume":"65","author":"M Worm","year":"2010","unstructured":"Worm M, Timmermans F, Moneret-Vautrin A, Muraro A, Malmheden II Y, Lovik M, Hattersley S, Crevel R. Towards a European registry of severe allergic reactions: current status of national registries and future needs. Allergy. 2010;65:671\u201380.","journal-title":"Allergy"},{"key":"684_CR22","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1002\/pds.1510","volume":"17","author":"LP Gutierrez","year":"2008","unstructured":"Gutierrez LP, Koltowska-Haggstrom M, Jonsson PJ, Mattsson AF, Svensson D, Westberg B, Luger A. Registries as a tool in evidence-based medicine: example of KIMS (Pfizer international metabolic database). Pharmacoepidemiol Drug Saf. 2008;17:90\u2013102.","journal-title":"Pharmacoepidemiol Drug Saf"},{"key":"684_CR23","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1007\/s10545-010-9267-3","volume":"34","author":"E Amber","year":"2011","unstructured":"Amber E, ten Hoedt AE, Maurice-Stam H, Boelen CC, Rubio-Gozalbo ME, van Spronsen FJ, Wijburg FA, Bosch AM, Grootenhuis MA. Parenting a child with phenylketonuria or galactosemia: implications for health-related quality of life. J Inherit Metab Dis. 2011;34:391\u20138.","journal-title":"J Inherit Metab Dis"},{"key":"684_CR24","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/j.ymgme.2013.05.008","volume":"109","author":"KM Camp","year":"2013","unstructured":"Camp KM, Lloyd-Puryear MA, Yao L, Groft SC, Parisi MA, Mulberg A, Gopal-Srivastava R, Cederbaum S, Enns GM, Ershow AG, et al. Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism. Mol Genet Metab. 2013;109:319\u201328.","journal-title":"Mol Genet Metab"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0684-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13023-017-0684-3\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-017-0684-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T10:29:38Z","timestamp":1589538578000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-017-0684-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,7,19]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["684"],"URL":"https:\/\/doi.org\/10.1186\/s13023-017-0684-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,7,19]]},"assertion":[{"value":"9 March 2017","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 July 2017","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 July 2017","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Optional","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Authors\u2019 information"}},{"value":"The NBS Connect project was approved by Emory University\u2019s Institution Review Board (IRB) in 2011. (IRB00052505 - NBS Connect Registry). Participation in the registry is voluntary and all participants provide electronic informed consent (see attached). Only de-identified information is presented.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable. Only de-identified information is presented.No identifiable data are presented.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"132"}}