{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T23:58:35Z","timestamp":1781135915127,"version":"3.54.1"},"reference-count":23,"publisher":"Georg Thieme Verlag KG","issue":"03","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Z Geburtshilfe Neonatol"],"published-print":{"date-parts":[[2026,6]]},"DOI":"10.1055\/a-2825-7263","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:17:07Z","timestamp":1774570627000},"page":"258-260","source":"Crossref","is-referenced-by-count":0,"title":["A Rare Phenotype of X-linked Myotubular Myopathy: Hydrops Fetalis and\n                    Refractory Congenital Chylothorax with Fatal Outcome"],"prefix":"10.1055","volume":"230","author":[{"given":"Chousein","family":"Amet","sequence":"additional","affiliation":[{"name":"Neonatology, Biruni University, Istanbul,\n                    Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Medical genetics, Ko\u00e7 University, Istanbul,\n                    Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00fcleyman","family":"Bayraktar","sequence":"additional","affiliation":[{"name":"Pediatric Critrical Care Medicine, Haseki Training and\n                    Research Hospital, Istanbul, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilge Bayraktar","family":"Tanyeri","sequence":"additional","affiliation":[{"name":"Neonatology, Biruni University, Istanbul,\n                    Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"194","published-online":{"date-parts":[[2026,3,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-3-26","article-title":"Centronuclear (myotubular) myopathy","volume":"3","author":"H Jungbluth","year":"2008","journal-title":"Orphanet J Rare Dis"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1002\/mus.26018","article-title":"A multicenter, retrospective medical record review of X-linked myotubular\n                    myopathy: The recensus study","volume":"57","author":"A H Beggs","year":"2018","journal-title":"Muscle Nerve"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"8910","DOI":"10.1073\/pnas.160255697","article-title":"Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy,\n                    dephosphorylates phosphatidylinositol 3-phosphate","volume":"97","author":"G S Taylor","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"ref4","first-page":"195","volume-title":"Congenital Myopathies","author":"M W Lawlor","year":"2014"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"e1852","DOI":"10.1212\/WNL.0000000000007319","article-title":"X-linked myotubular myopathy: A prospective international natural history\n                    study","volume":"92","author":"M Annoussamy","year":"2019","journal-title":"Neurology"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1355","DOI":"10.1212\/WNL.0000000000004415","article-title":"A natural history study of X-linked myotubular myopathy","volume":"89","author":"K Amburgey","year":"2017","journal-title":"Neurology"},{"key":"ref7","first-page":"34","article-title":"[A case of X-linked myotubular myopathy with chylothorax]","volume":"48","author":"T Oishi","year":"2016","journal-title":"No To Hattatsu"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.nmd.2022.04.010","article-title":"Pulmonary lymphangiectasia in myotubular myopathy: a novel unrecognized\n                    association?","volume":"32","author":"G De Carvalho Nunes","year":"2022","journal-title":"Neuromuscul Disord"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"F169","DOI":"10.1136\/archdischild-2014-307274","article-title":"Congenital chylothorax: a prospective nationwide epidemiological study in\n                    Germany","volume":"100","author":"A Bialkowski","year":"2015","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1159\/000518217","article-title":"Congenital chylothorax of the newborn: A systematic analysis of published cases\n                    between 1990 and 2018","volume":"101","author":"B Resch","year":"2022","journal-title":"Respiration"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1111\/j.1651-2227.2006.tb02342.x","article-title":"Pleural effusions in the neonate","volume":"95","author":"G Rocha","year":"2006","journal-title":"Acta Paediatr"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1542\/peds.2013-2072","article-title":"Chylothorax in infants and children","volume":"133","author":"J D Tutor","year":"2014","journal-title":"Pediatrics"},{"key":"ref13","first-page":"104","article-title":"Congenital chylothorax in the neonate","volume":"15","author":"G Rocha","year":"2019","journal-title":"Curr Pediatr Rev"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1017\/S0317167100043444","article-title":"Neonatal myotubular myopathy: neuropathy and failure of postnatal maturation of\n                    fetal muscle","volume":"8","author":"H B Sarnat","year":"1981","journal-title":"Can J Neurol Sci"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1001\/archneur.1966.00470070005001","article-title":"Myotubular myopathy: Persistence of fetal muscle in an affected child","volume":"14","author":"A J Spiro","year":"1966","journal-title":"Arch Neurol"},{"key":"ref16","first-page":"1000","article-title":"Myotubular myopathy: A clinical study of 18 cases","volume":"60","author":"J Z Heckmatt","year":"1985","journal-title":"Arch Dis Child"},{"key":"ref17","first-page":"741","article-title":"The clinical, morphological, and genetic spectrum of myotubular myopathy","volume":"118","author":"C Wallgren-Pettersson","year":"1995","journal-title":"Brain"},{"key":"ref18","volume-title":"Neuromuscular disorders: Muscle involvement and restricted disorders","author":"J J Volpe","year":"2008"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/jhg.2016.79","article-title":"Target resequencing of neuromuscular disease-related genes using next-generation\n                    sequencing for early-onset neuromuscular disorders","volume":"61","author":"Y Kitamura","year":"2016","journal-title":"J Hum Genet"},{"key":"ref20","first-page":"23","article-title":"Lymphatic dysplasia syndromes: Genetic and clinical overview","volume":"84","author":"F Connell","year":"2013","journal-title":"Clin Genet"},{"key":"ref21","first-page":"22","article-title":"Expanding the phenotypic spectrum of congenital myopathies: multisystem\n                    involvement","volume":"15","author":"R Ferese","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.rmed.2009.08.010","article-title":"Chylothorax: aetiology, diagnosis and therapeutic options","volume":"104","author":"E E McGrath","year":"2010","journal-title":"Respir Med"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1378\/chest.116.3.682","article-title":"Chylothorax in children: guidelines for diagnosis and management","volume":"116","author":"V Buttiker","year":"1999","journal-title":"Chest"}],"container-title":["Zeitschrift f\u00fcr Geburtshilfe und Neonatologie"],"original-title":[],"language":"de","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/a-2825-7263.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T23:29:15Z","timestamp":1781134155000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/a-2825-7263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,3,26]]},"references-count":23,"journal-issue":{"issue":"03","published-online":{"date-parts":[[2026,6,5]]},"published-print":{"date-parts":[[2026,6]]}},"URL":"https:\/\/doi.org\/10.1055\/a-2825-7263","archive":["Portico","CLOCKSS"],"relation":{},"ISSN":["0948-2393","1439-1651"],"issn-type":[{"value":"0948-2393","type":"print"},{"value":"1439-1651","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,3,26]]}}}