{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,21]],"date-time":"2025-12-21T12:03:15Z","timestamp":1766318595033},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","funder":[{"name":"the authors do not have funding for this study."}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2017,12]]},"DOI":"10.1186\/s13052-017-0333-4","type":"journal-article","created":{"date-parts":[[2017,1,19]],"date-time":"2017-01-19T14:34:31Z","timestamp":1484836471000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency"],"prefix":"10.1186","volume":"43","author":[{"given":"Juan Ignacio","family":"Mu\u00f1oz-Bonet","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda del Carmen","family":"Ortega-S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jos\u00e9 Luis","family":"Le\u00f3n Guijarro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,1,19]]},"reference":[{"key":"333_CR1","first-page":"1013","volume":"294","author":"K Faull","year":"1976","unstructured":"Faull K, Bolton P, Halpern B, et al. Patient with defect in leucine catabolism. N Engl J Med. 1976;294:1013\u20135.","journal-title":"N Engl J Med"},{"key":"333_CR2","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1824-7288-39-33","volume":"39","author":"F Santarelli","year":"2013","unstructured":"Santarelli F, Cassanello M, Enea A, et al. A neonatal case of 3-hydroxy-3-methylglutaric-coenzyme A lyase deficiency. Ital J Pediatr. 2013;39:33.","journal-title":"Ital J Pediatr"},{"key":"333_CR3","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.pediatrneurol.2007.02.007","volume":"37","author":"DI Zafeiriou","year":"2007","unstructured":"Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA. 3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency with reversible white matter changes after treatment. Pediatr Neurol. 2007;37:47\u201350.","journal-title":"Pediatr Neurol"},{"issue":"1\u20132","key":"333_CR4","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s11010-014-2322-x","volume":"402","author":"MM Santos Dos","year":"2015","unstructured":"Dos Santos MM, Ribas GS, Wayhs CA, et al. Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria. Mol Cell Biochem. 2015;402(1\u20132):149\u201355.","journal-title":"Mol Cell Biochem"},{"issue":"Suppl 1","key":"333_CR5","doi-asserted-by":"crossref","first-page":"S49","DOI":"10.1007\/s10545-009-1048-5","volume":"32","author":"S Reimao","year":"2009","unstructured":"Reimao S, Morgado C, Almeida IT, Silva M, Real HC, Campos J. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Initial presentation in a young adult. J Inherit Metab Dis. 2009;32 Suppl 1:S49\u201352.","journal-title":"J Inherit Metab Dis"},{"key":"333_CR6","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1007\/s10545-015-9863-3","volume":"38","author":"G Leipnitz","year":"2015","unstructured":"Leipnitz G, Regla Vargas C, Wajener M. Disturbance of redox homeostasis as a contributing underlying pathomechanism of brain and liver alterations in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis. 2015;38:1021\u20138.","journal-title":"J Inherit Metab Dis"},{"key":"333_CR7","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1042\/bj3230329","volume":"323","author":"J Pi\u00e9","year":"1997","unstructured":"Pi\u00e9 J, Casals N, Casale CH, et al. A nonsense mutation in the 3-hydroxy-3-methylglutaryl-CoA lyase gene produces exon skipping in two patients of different origin with 3-hidroxy-3-methylglutaryl-CoA lyase deficiency. Biochem J. 1997;323:329\u201335.","journal-title":"Biochem J"},{"key":"333_CR8","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1007\/s10545-006-0138-x","volume":"29","author":"C Mir","year":"2006","unstructured":"Mir C, Lopez-Vi\u00f1as E, Aledo R, et al. A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase. J Inherit Metab Dis. 2006;29:64\u201370.","journal-title":"J Inherit Metab Dis"},{"key":"333_CR9","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.arcped.2009.09.022","volume":"17","author":"S Pierron","year":"2010","unstructured":"Pierron S, Giudicelli H, Moreigne M, et al. D\u00e9ficit en 3-HMG-CoA lyase \u00e0 r\u00e9v\u00e9lation tardive: savoir reconnaitre une maladie rare mais traitable. Arch Pediatr. 2010;17:10\u20133.","journal-title":"Arch Pediatr"},{"key":"333_CR10","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/BF00441397","volume":"148","author":"KM Gibson","year":"1988","unstructured":"Gibson KM, Breuer J, Nyhan WL. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patients. Eur J Pediatr. 1988;148:180\u20136.","journal-title":"Eur J Pediatr"},{"key":"333_CR11","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1023\/A:1005642316174","volume":"23","author":"J Muroi","year":"2000","unstructured":"Muroi J, Yorifuji JT, Uematsu A, Nakajata T. Cerebral infarction and pancreatitis: possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. J Inherit Metab Dis. 2000;23:636\u20137.","journal-title":"J Inherit Metab Dis"},{"key":"333_CR12","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1007\/s004310050927","volume":"157","author":"M Huemer","year":"1998","unstructured":"Huemer M, Muehl A, Wandl-Vergesslich K, Strobl W, Wanders RJ, Stoeckler-Ipsiroglu S. Stroke-like encephalopathy in an infant with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. Eur J Pediatr. 1998;157:743\u20136.","journal-title":"Eur J Pediatr"}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-017-0333-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,25]],"date-time":"2017-06-25T08:36:48Z","timestamp":1498379808000},"score":1,"resource":{"primary":{"URL":"http:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/s13052-017-0333-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,19]]},"references-count":12,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,12]]}},"alternative-id":["333"],"URL":"https:\/\/doi.org\/10.1186\/s13052-017-0333-4","relation":{},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,19]]},"article-number":"12"}}