{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T00:28:40Z","timestamp":1707524920741},"reference-count":20,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,2,26]]},"DOI":"10.7759\/cureus.35498","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T02:31:55Z","timestamp":1677465115000},"source":"Crossref","is-referenced-by-count":0,"title":["Duchenne Muscular Dystrophy Presenting as Incidental Hyper-Transaminasasemia in a Two-Month-Old Male"],"prefix":"10.7759","author":[{"given":"Uzoego N","family":"Chibuzo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madeline","family":"Bruman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ariela","family":"Holguin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Babu","family":"Bangaru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","unstructured":"Muscular Dystrophy Information Page | National Institute of Neurological Disorders and Stroke. Accessed. May 16, 2020: https:\/\/www.ninds.nih.gov\/disorders\/all-disorders\/muscular-dystrophy-information-page."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2009.02.007","article-title":"Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)","volume":"155","author":"Ciafaloni E","year":"2009","unstructured":"Ciafaloni E, Fox DJ, Pandya S, et al.. Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet). J Pediatr. 2009, 155:380-5. 10.1016\/j.jpeds.2009.02.007","journal-title":"J Pediatr"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-090314-025003","article-title":"The Pathogenesis and therapy of muscular dystrophies","volume":"16","author":"Guiraud S","year":"2015","unstructured":"Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The Pathogenesis and therapy of muscular dystrophies. Annu Rev Genomics Hum Genet. 2015, 16:281-308. 10.1146\/annurev-genom-090314-025003","journal-title":"Annu Rev Genomics Hum Genet"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz049","article-title":"The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy","volume":"28","author":"Guiraud S","year":"2019","unstructured":"Guiraud S, Edwards B, Babbs A, et al.. The potential of utrophin and dystrophin combination therapies for Duchenne muscular dystrophy. Hum Mol Genet. 2019, 28:2189-200. 10.1093\/hmg\/ddz049","journal-title":"Hum Mol Genet"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30024-3","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management","volume":"17","author":"Birnkrant DJ","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al.. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018, 17:251-67. 10.1016\/S1474-4422(18)30024-3","journal-title":"Lancet Neurol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.1.1","article-title":"Feasibility of neonatal screening for Duchenne muscular dystrophy","volume":"19","author":"Skinner R","year":"1982","unstructured":"Skinner R, Emery AE, Scheuerbrandt G, Syme J. Feasibility of neonatal screening for Duchenne muscular dystrophy. J Med Genet. 1982, 19:1-3. 10.1136\/jmg.19.1.1","journal-title":"J Med Genet"},{"key":"ref7","unstructured":"Office of the FDA Commissioner. FDA authorizes first test to aid in newborn screening for Duchenne Muscular Dystrophy. (2020). Accessed. May 17, 2020: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-authorizes-first-test-aid-newborn-screening-duchenne-muscular...."},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(14)70318-7","article-title":"Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial","volume":"14","author":"Raman SV","year":"2015","unstructured":"Raman SV, Hor KN, Mazur W, et al.. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2015, 14:153-61. 10.1016\/S1474-4422(14)70318-7","journal-title":"Lancet Neurol"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0590-8","article-title":"Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial","volume":"12","author":"Raman SV","year":"2017","unstructured":"Raman SV, Hor KN, Mazur W, et al.. Eplerenone for early cardiomyopathy in Duchenne muscular dystrophy: results of a two-year open-label extension trial. Orphanet J Rare Dis. 2017, 12:39. 10.1186\/s13023-017-0590-8","journal-title":"Orphanet J Rare Dis"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23172","article-title":"Characterization of pulmonary function in Duchenne muscular dystrophy","volume":"50","author":"Mayer OH","year":"2015","unstructured":"Mayer OH, Finkel RS, Rummey C, et al.. Characterization of pulmonary function in Duchenne muscular dystrophy. Pediatr Pulmonol. 2015, 50:487-94. 10.1002\/ppul.23172","journal-title":"Pediatr Pulmonol"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22836","article-title":"Determinants of cough efficiency in Duchenne muscular dystrophy","volume":"49","author":"LoMauro A","year":"2014","unstructured":"LoMauro A, Romei M, D'Angelo MG, Aliverti A. Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014, 49:357-65. 10.1002\/ppul.22836","journal-title":"Pediatr Pulmonol"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1183\/20734735.012716","article-title":"Physiology of respiratory disturbances in muscular dystrophies","volume":"12","author":"Lo Mauro A","year":"2016","unstructured":"Lo Mauro A, Aliverti A. Physiology of respiratory disturbances in muscular dystrophies. Breathe (Sheff). 2016, 12:318-27. 10.1183\/20734735.012716","journal-title":"Breathe (Sheff)"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30025-5","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management","volume":"17","author":"Birnkrant DJ","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al.. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018, 17:347-61. 10.1016\/S1474-4422(18)30025-5","journal-title":"Lancet Neurol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2008-2952C","article-title":"The pathophysiology of respiratory impairment in pediatric neuromuscular diseases","volume":"123 Suppl 4","author":"Panitch HB","year":"2009","unstructured":"Panitch HB. The pathophysiology of respiratory impairment in pediatric neuromuscular diseases. Pediatrics. 2009, 123 Suppl 4:S215-8. 10.1542\/peds.2008-2952C","journal-title":"Pediatrics"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCRESAHA.116.308402","article-title":"Duchenne muscular dystrophy mice and men: can understanding a genetic cardiomyopathy inform treatment of other myocardial diseases?","volume":"118","author":"Rafael-Fortney JA","year":"2016","unstructured":"Rafael-Fortney JA, Chadwick JA, Raman SV. Duchenne muscular dystrophy mice and men: can understanding a genetic cardiomyopathy inform treatment of other myocardial diseases?. Circ Res. 2016, 118:1059-61. 10.1161\/CIRCRESAHA.116.308402","journal-title":"Circ Res"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0008803","article-title":"Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy","volume":"5","author":"Taylor PJ","year":"2010","unstructured":"Taylor PJ, Betts GA, Maroulis S, et al.. Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One. 2010, 5:e8803. 10.1371\/journal.pone.0008803","journal-title":"PLoS One"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2431-14-170","article-title":"Predictors of effectiveness of early intervention on children with intellectual disability: a retrospective cohort study","volume":"14","author":"Lai DC","year":"2014","unstructured":"Lai DC, Chiang CH, Hou YM, Liu JH, Yao SF, Guo HR, Tseng YC. Predictors of effectiveness of early intervention on children with intellectual disability: a retrospective cohort study. BMC Pediatr. 2014, 14:170. 10.1186\/1471-2431-14-170","journal-title":"BMC Pediatr"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(18)30026-7","article-title":"Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan","volume":"17","author":"Birnkrant DJ","year":"2018","unstructured":"Birnkrant DJ, Bushby K, Bann CM, et al.. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018, 17:445-55. 10.1016\/S1474-4422(18)30026-7","journal-title":"Lancet Neurol"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ana.22024","article-title":"Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy","volume":"67","author":"Malik V","year":"2010","unstructured":"Malik V, Rodino-Klapac LR, Viollet L, et al.. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol. 2010, 67:771-80. 10.1002\/ana.22024","journal-title":"Ann Neurol"},{"key":"ref20","unstructured":"Office of the FDA Commissioner. FDA grants accelerated approval to first drug for Duchenne muscular dystrophy. FDA. Published March 24. (2020). Accessed. May 24, 2020: https:\/\/www.fda.gov\/news-events\/press-announcements\/fda-grants-accelerated-approval-first-drug-duchenne-muscular-dyst...."}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/121527-duchenne-muscular-dystrophy-presenting-as-incidental-hyper-transaminasasemia-in-a-two-month-old-male","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:59:59Z","timestamp":1707508799000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/121527-duchenne-muscular-dystrophy-presenting-as-incidental-hyper-transaminasasemia-in-a-two-month-old-male"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,26]]},"references-count":20,"URL":"https:\/\/doi.org\/10.7759\/cureus.35498","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,2,26]]}}}