{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,8]],"date-time":"2025-12-08T22:17:30Z","timestamp":1765232250685},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2015,7,21]],"date-time":"2015-07-21T00:00:00Z","timestamp":1437436800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Metab Brain Dis"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1007\/s11011-015-9707-8","type":"journal-article","created":{"date-parts":[[2015,7,20]],"date-time":"2015-07-20T08:18:38Z","timestamp":1437380318000},"page":"1537-1545","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Severe early onset ethylmalonic encephalopathy with West syndrome"],"prefix":"10.1007","volume":"30","author":[{"given":"Laura","family":"Papetti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giacomo","family":"Garone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livia","family":"Schettini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Giordano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Nicita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Papoff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincenzo","family":"Leuzzi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Spalice","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2015,7,21]]},"reference":[{"issue":"Suppl 3","key":"9707_CR1","doi-asserted-by":"crossref","first-page":"S443","DOI":"10.1007\/s10545-010-9227-y","volume":"33","author":"M Barth","year":"2010","unstructured":"Barth M, Ottolenghi C, Hubert L, Chr\u00e9tien D, Serre V, Gobin S, Romano S, Vassault A, Sefiani A, Ricquier D, Boddaert N, Brivet M, de Keyzer Y, Munnich A, Duran M, Rabier D, Valayannopoulos V, de Lonlay P (2010) Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy. J Inherit Metab Dis 33(Suppl 3):S443\u2013S453","journal-title":"J Inherit Metab Dis"},{"key":"9707_CR2","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/S0022-3476(94)70257-8","volume":"124","author":"AB Burlina","year":"1994","unstructured":"Burlina AB, Dionisi-Vici C, Bennett MJ, Gibson KM, Servidei S, Bertini E, Hale DE, Schmidt-Sommerfeld E, Sabetta G, Zacchello F et al (1994) A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 124:79\u201386","journal-title":"J Pediatr"},{"issue":"3","key":"9707_CR3","doi-asserted-by":"crossref","first-page":"553","DOI":"10.1007\/BF00711679","volume":"16","author":"E Christensen","year":"1993","unstructured":"Christensen E, Brandt NJ, Schmalbruch H, Kamieniecka Z, Hertz B, Ruitenbeek W (1993) Muscle cytochrome c oxidase deficiency accompanied by a urinary organic acid pattern mimicking multiple acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 16(3):553\u2013556","journal-title":"J Inherit Metab Dis"},{"key":"9707_CR4","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1089\/ars.2010.3520","volume":"15","author":"I Meo Di","year":"2011","unstructured":"Di Meo I, Fagiolari G, Prelle A, Viscomi C, Zeviani M, Tiranti V (2011) Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy. Antioxid Redox Signal 15:353\u2013362","journal-title":"Antioxid Redox Signal"},{"key":"9707_CR5","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1016\/j.ymgme.2006.05.010","volume":"89","author":"M Rocco Di","year":"2006","unstructured":"Di Rocco M, Caruso U, Briem E, Rossi A, Allegri AEM, Buzzi D, Tiranti V (2006) A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation. Mol Genet Metab 89:395\u2013397","journal-title":"Mol Genet Metab"},{"key":"9707_CR6","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1111\/j.1399-0004.2010.01457.x","volume":"79","author":"A Drousiotou","year":"2011","unstructured":"Drousiotou A, DiMeo I, Mineri R, Georgiou T, Stylianidou G, Tiranti V (2011) Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches. Clin Genet 79:385\u2013390","journal-title":"Clin Genet"},{"key":"9707_CR7","doi-asserted-by":"crossref","first-page":"613","DOI":"10.1007\/s11011-012-9313-y","volume":"27","author":"I Dweikat","year":"2012","unstructured":"Dweikat I, Naser E, Damsah N, Libdeh BA, Bakri I (2012) Ethylmalonic encephalopathy associated with crescentic glomerulonephritis. Metab Brain Dis 27:613\u2013616","journal-title":"Metab Brain Dis"},{"issue":"3","key":"9707_CR8","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1007\/BF00711813","volume":"17","author":"B Garavaglia","year":"1994","unstructured":"Garavaglia B, Colamaria V, Carrara F, Tonin P, Rimoldi M, Uziel G (1994) Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype. J Inherit Metab Dis 17(3):301\u2013303","journal-title":"J Inherit Metab Dis"},{"key":"9707_CR9","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/S0887-8994(97)00048-9","volume":"17","author":"MT Garc\u00eda-Silva","year":"1997","unstructured":"Garc\u00eda-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J (1997) Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 17:165\u2013170","journal-title":"Pediatr Neurol"},{"key":"9707_CR10","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1007\/s10545-011-9408-3","volume":"35","author":"C Giordano","year":"2012","unstructured":"Giordano C, Viscomi C, Orlandi M, Papoff P, Spalice A, Burlina A, Di Meo I, Tiranti V, Leuzzi V, d'Amati G, Zeviani M (2012) Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy. J Inherit Metab Dis 35:451\u2013458","journal-title":"J Inherit Metab Dis"},{"key":"9707_CR11","doi-asserted-by":"crossref","first-page":"1446","DOI":"10.1007\/s00415-002-0880-4","volume":"249","author":"S Grosso","year":"2002","unstructured":"Grosso S, Mostardini R, Farnetani MA, Molinelli M, Berardi R, Dionisi-Vici C, Rizzo C, Morgese G, Balestri P (2002) Ethylmalonic encephalopathy: further clinical and neuroradiological characterization. J Neurol 249:1446\u20131450","journal-title":"J Neurol"},{"key":"9707_CR12","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1016\/j.braindev.2005.10.005","volume":"28","author":"LC Heberle","year":"2006","unstructured":"Heberle LC, Al Tawari AA, Ramadan DG, Ibrahim JK (2006) Ethylmalonic encephalopathy-report of two cases. Brain Dev 28:329\u2013331","journal-title":"Brain Dev"},{"key":"9707_CR13","doi-asserted-by":"crossref","first-page":"e107157","DOI":"10.1371\/journal.pone.0107157","volume":"9","author":"BJ Henriques","year":"2014","unstructured":"Henriques BJ, Lucas TG, Rodrigues JV, Frederiksen JH, Teixeira MS, Tiranti V, Bross P, Gomes CM (2014) Ethylmalonic encephalopathy ETHE1 R163W\/R163Q mutations alter protein stability and redox properties of the iron centre. PLoS One 9:e107157. doi: 10.1371\/journal.pone.0107157","journal-title":"PLoS One"},{"issue":"1","key":"9707_CR14","first-page":"78","volume":"14","author":"EA Ismail","year":"2009","unstructured":"Ismail EA, Seoudi TM, Morsi EA, Ahmad AH (2009) Ethylmalonic encephalopathy. Another patient from Kuwait. Neurosciences (Riyadh) 14(1):78\u201380","journal-title":"Neurosciences (Riyadh)"},{"key":"9707_CR15","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1001\/archneur.61.4.570","volume":"61","author":"KA McGowan","year":"2004","unstructured":"McGowan KA, Nyhan WL, Barshop BA, Naviaux RK, Yu A, Haas RH, Townsend JJ (2004) The role of methionine in ethylmalonic encephalopathy with petechiae. Arch Neurol 61:570\u2013574","journal-title":"Arch Neurol"},{"key":"9707_CR16","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1007\/s10545-006-0342-8","volume":"29","author":"B Merinero","year":"2006","unstructured":"Merinero B, P\u00e9rez-Cerd\u00e1 C, Ruiz Sala P, Ferrer I, Garc\u00eda MJ, Mart\u00ednez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hern\u00e1ndez E, Vianey-Saban C, Bischoff C, Gregersen N, Ugarte M (2006) Persistent increase of plasma butyryl\/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J Inherit Metab Dis 29:685","journal-title":"J Inherit Metab Dis"},{"key":"9707_CR17","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1136\/jmg.2008.058271","volume":"45","author":"R Mineri","year":"2008","unstructured":"Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von D\u00f6beln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V (2008) Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. J Med Genet 45:473\u2013478","journal-title":"J Med Genet"},{"key":"9707_CR18","doi-asserted-by":"crossref","unstructured":"Nowaczyk MJ, Lehotay DC, Platt BA, Fisher L, Tan R, Philips H, Clarke JT (1998) Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnoral isoleucine metabolism. Metabolism 47:836--839","DOI":"10.1016\/S0026-0495(98)90122-6"},{"issue":"Suppl","key":"9707_CR19","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/0387-7604(94)90092-2","volume":"16","author":"PT Ozand","year":"1994","unstructured":"Ozand PT, Rashed M, Millington DS, Sakati N, Hazzaa S, Rahbeeni Z, al Odaib A, Youssef N, Mazrou A, Gascon GG et al (1994) Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy. Brain Dev 16(Suppl):12\u201322","journal-title":"Brain Dev"},{"issue":"5","key":"9707_CR20","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1177\/0883073812449070","volume":"28","author":"E Pavlou","year":"2013","unstructured":"Pavlou E, Augoustides-Savvopoulou P, Gregersen N, Haas D, Gkampeta A, Athanassiadou-Piperopoulou F (2013) An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder. J Child Neurol 28(5):668\u2013671","journal-title":"J Child Neurol"},{"key":"9707_CR21","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1177\/0883073808331359","volume":"24","author":"N Pigeon","year":"2009","unstructured":"Pigeon N, Campeau PM, Cyr D, Lemieux B, Clarke JTR (2009) Clinical heterogeneity in ethylmalonic encephalopathy. J Child Neurol 24:991\u2013996","journal-title":"J Child Neurol"},{"key":"9707_CR22","doi-asserted-by":"crossref","first-page":"a011437","DOI":"10.1101\/cshperspect.a011437","volume":"5","author":"V Tiranti","year":"2013","unstructured":"Tiranti V, Zeviani M (2013) Altered sulfide (H(2)S) metabolism in ethylmalonic encephalopathy. Cold Spring Harb Perspect Biol 5:a011437","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"9707_CR23","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1086\/381653","volume":"74","author":"V Tiranti","year":"2004","unstructured":"Tiranti V, D'Adamo P, Briem E, Ferrari G, Mineri R, Lamantea E, Mandel H, Balestri P, Garcia-Silva M, Vollmer B, Rinaldo P, Hahn SH, Leonard J, Rahman S, Dionisi-Vici C, Garavaglia B, Gasparini P, Zeviani M (2004) Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet 74:239\u2013252","journal-title":"Am J Hum Genet"},{"key":"9707_CR24","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1038\/nm.1907","volume":"15","author":"V Tiranti","year":"2009","unstructured":"Tiranti V, Viscomi C, Hildebrandt T, Di Meo I, Mineri R, Tiveron C, Levitt MD, Prelle A, Fagiolari G, Rimoldi M, Zeviani M (2009) Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy. Nat Med 15:200\u2013205","journal-title":"Nat Med"},{"key":"9707_CR25","doi-asserted-by":"crossref","first-page":"869","DOI":"10.1038\/nm.2188","volume":"16","author":"C Viscomi","year":"2010","unstructured":"Viscomi C, Burlina AB, Dweikat I, Savoiardo M, Lamperti C, Hildebrandt T, Tiranti V, Zeviani M (2010) Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy. Nat Med 16:869\u2013871","journal-title":"Nat Med"},{"key":"9707_CR26","unstructured":"Yi\u015f U, Polat I, Karakaya P, Ayanogiu M, Hiz AS (2015) Importance of acrocyanosis in delayed walking. J Pediatr Neurosci 10:80--81."},{"key":"9707_CR27","doi-asserted-by":"crossref","first-page":"870","DOI":"10.1023\/A:1013948409790","volume":"24","author":"HR Yoon","year":"2001","unstructured":"Yoon HR, Hahn SH, Ahn YM, Jang SH, Shin YJ, Lee EH, Ryu KH, Eun BL, Rinaldo P, Yamaguchi S (2001) Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin. J Inherit Metab Dis 24:870\u2013873","journal-title":"J Inherit Metab Dis"},{"issue":"2","key":"9707_CR28","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1055\/s-2007-984447","volume":"38","author":"DI Zafeiriou","year":"2007","unstructured":"Zafeiriou DI, Augoustides-Savvopoulou P, Haas D, Smet J, Triantafyllou P, Vargiami E, Tamiolaki M, Gombakis N, van Coster R, Sewell AC, Vianey-Saban C, Gregersen N (2007) Ethylmalonic encephalopathy: clinical and biochemical observations. Neuropediatrics 38(2):78\u201382","journal-title":"Neuropediatrics"}],"container-title":["Metabolic Brain Disease"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-015-9707-8.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11011-015-9707-8\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11011-015-9707-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T02:22:07Z","timestamp":1559355727000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11011-015-9707-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,21]]},"references-count":28,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["9707"],"URL":"https:\/\/doi.org\/10.1007\/s11011-015-9707-8","relation":{},"ISSN":["0885-7490","1573-7365"],"issn-type":[{"value":"0885-7490","type":"print"},{"value":"1573-7365","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,21]]}}}