{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T15:23:26Z","timestamp":1793201006382,"version":"4.5.0"},"publisher-location":"Cham","reference-count":24,"publisher":"Springer International Publishing","isbn-type":[{"value":"9783319557793","type":"print"},{"value":"9783319557809","type":"electronic"}],"license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017]]},"DOI":"10.1007\/978-3-319-55780-9_19","type":"book-chapter","created":{"date-parts":[[2017,7,28]],"date-time":"2017-07-28T08:13:52Z","timestamp":1501229632000},"page":"205-213","source":"Crossref","is-referenced-by-count":12,"title":["Remaining Challenges in the Treatment of Tyrosinemia from the Clinician\u2019s Viewpoint"],"prefix":"10.1007","author":[{"given":"Grant A.","family":"Mitchell","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2017,7,29]]},"reference":[{"issue":"Suppl 3","key":"19_CR1","doi-asserted-by":"publisher","first-page":"S507","DOI":"10.1007\/s10545-012-9569-8","volume":"33","author":"N Garcia Segarra","year":"2010","unstructured":"Garcia Segarra N, Roche S, Imbard A, Benoist JF, Greneche MO, Davit-Spraul A, Ogier de Baulny H (2010) Maternal and fetal tyrosinemia type I. J Inherit Metab Dis 33(Suppl 3):S507\u2013S510. doi:\n10.1007\/s10545-012-9569-8","journal-title":"J Inherit Metab Dis"},{"issue":"21","key":"19_CR2","doi-asserted-by":"publisher","first-page":"1265","DOI":"10.1056\/NEJM198305263082105","volume":"308","author":"MK Hostetter","year":"1983","unstructured":"Hostetter MK, Levy HL, Winter HS, Knight GJ, Haddow JE (1983) Evidence for liver disease preceding amino acid abnormalities in hereditary tyrosinemia. N Engl J Med 308(21):1265\u20131267. doi:\n10.1056\/NEJM198305263082105","journal-title":"N Engl J Med"},{"issue":"2","key":"19_CR3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/BF00451920","volume":"144","author":"C Jakobs","year":"1985","unstructured":"Jakobs C, Kvittingen EA, Berger R, Haagen A, Kleijer W, Niermeijer M (1985) Prenatal diagnosis of tyrosinaemia type I by use of stable isotope dilution mass spectrometry. Eur J Pediatr 144(2):209\u2013210","journal-title":"Eur J Pediatr"},{"issue":"1","key":"19_CR4","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1006\/bbrc.1997.6220","volume":"232","author":"R Jorquera","year":"1997","unstructured":"Jorquera R, Tanguay RM (1997) The mutagenicity of the tyrosine metabolite, fumarylacetoacetate, is enhanced by glutathione depletion. Biochem Biophys Res Commun 232(1):42\u201348. doi:\n10.1006\/bbrc.1997.6220","journal-title":"Biochem Biophys Res Commun"},{"issue":"1","key":"19_CR5","doi-asserted-by":"publisher","first-page":"e5","DOI":"10.1097\/MPG.0b013e3182a27463","volume":"60","author":"R Kassel","year":"2015","unstructured":"Kassel R, Sprietsma L, Rudnick DA (2015) Pregnancy in an NTBC-treated patient with hereditary tyrosinemia type I. J Pediatr Gastroenterol Nutr 60(1):e5\u2013e7. doi:\n10.1097\/MPG.0b013e3182a27463","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"4","key":"19_CR6","doi-asserted-by":"publisher","first-page":"1657","DOI":"10.1172\/JCI117509","volume":"94","author":"EA Kvittingen","year":"1994","unstructured":"Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P (1994) Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Invest 94(4):1657\u20131661. doi:\n10.1172\/JCI117509","journal-title":"J Clin Invest"},{"issue":"3","key":"19_CR7","doi-asserted-by":"publisher","first-page":"306","DOI":"10.1016\/j.ymgme.2007.09.018","volume":"93","author":"C Langlois","year":"2008","unstructured":"Langlois C, Jorquera R, Orejuela D, Bergeron A, Finegold MJ, Rhead WJ, Tanguay RM (2008) Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment. Mol Genet Metab 93(3):306\u2013313. doi:\n10.1016\/j.ymgme.2007.09.018","journal-title":"Mol Genet Metab"},{"issue":"1\u20132","key":"19_CR8","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1016\/j.ymgme.2012.05.022","volume":"107","author":"J Larochelle","year":"2012","unstructured":"Larochelle J, Alvarez F, Bussieres JF, Chevalier I, Dallaire L, Dubois J, Faucher F, Fenyves D, Goodyer P, Grenier A, Holme E, Laframboise R, Lambert M, Lindstedt S, Maranda B, Melancon S, Merouani A, Mitchell J, Parizeault G, Pelletier L, Phan V, Rinaldo P, Scott CR, Scriver C, Mitchell GA (2012) Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Quebec. Mol Genet Metab 107(1\u20132):49\u201354. doi:\n10.1016\/j.ymgme.2012.05.022","journal-title":"Mol Genet Metab"},{"issue":"10","key":"19_CR9","doi-asserted-by":"crossref","first-page":"4641","DOI":"10.1073\/pnas.74.10.4641","volume":"74","author":"B Lindblad","year":"1977","unstructured":"Lindblad B, Lindstedt S, Steen G (1977) On the enzymic defects in hereditary tyrosinemia. Proc Natl Acad Sci U S A 74(10):4641\u20134645","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"10","key":"19_CR10","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1002\/bms.1200091003","volume":"9","author":"B Lindblad","year":"1982","unstructured":"Lindblad B, Steen G (1982) Identification of 4,6-dioxoheptanoic acid (succinylacetone), 3,5-dioxooctanedioic acid (succinylacetoacetate) and 4-Oxo-6-hydroxyheptanoic acid in the urine from patients with hereditary tyrosinemia. Biomed Mass Spectrom 9(10):419\u2013424. doi:\n10.1002\/bms.1200091003","journal-title":"Biomed Mass Spectrom"},{"issue":"3","key":"19_CR11","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1084\/jem.162.3.1060","volume":"162","author":"S Manabe","year":"1985","unstructured":"Manabe S, Sassa S, Kappas A (1985) Hereditary tyrosinemia. Formation of succinylacetone-amino acid adducts. J Exp Med 162(3):1060\u20131074","journal-title":"J Exp Med"},{"key":"19_CR12","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1186\/s13023-014-0107-7","volume":"9","author":"S Mayorandan","year":"2014","unstructured":"Mayorandan S, Meyer U, Gokcay G, Segarra NG, de Baulny HO, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla AS, Cocho de Juan JA, Couce Pico ML, Santer R, Scholl-Burgi S, Mandel H, Bliksrud YT, Freisinger P, Aldamiz-Echevarria LJ, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das AM (2014) Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis 9:107. doi:\n10.1186\/s13023-014-0107-7","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"19_CR13","doi-asserted-by":"publisher","first-page":"432","DOI":"10.1056\/NEJM199002153220704","volume":"322","author":"G Mitchell","year":"1990","unstructured":"Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H, Gauthier M, Lacroix J, Vanasse M, Larbrisseau A et al (1990) Neurologic crises in hereditary tyrosinemia. N Engl J Med 322(7):432\u2013437. doi:\n10.1056\/NEJM199002153220704","journal-title":"N Engl J Med"},{"key":"19_CR14","volume-title":"Hypertyrosinemia. The online metabolic & molecular bases of inherited disease (OMMBID)","author":"GA Mitchell","year":"2001","unstructured":"Mitchell GA, Grompe M, Lambert M, Tanguay RM (2001) Hypertyrosinemia. The online metabolic & molecular bases of inherited disease (OMMBID), 8th edn. McGraw Hill, New York","edition":"8"},{"issue":"2","key":"19_CR15","first-page":"338","volume":"47","author":"K Paradis","year":"1990","unstructured":"Paradis K, Weber A, Seidman EG, Larochelle J, Garel L, Lenaerts C, Roy CC (1990) Liver transplantation for hereditary tyrosinemia: the Quebec experience. Am J Hum Genet 47(2):338\u2013342","journal-title":"Am J Hum Genet"},{"issue":"4","key":"19_CR16","doi-asserted-by":"publisher","first-page":"347","DOI":"10.1038\/nbt.2842","volume":"32","author":"JD Sander","year":"2014","unstructured":"Sander JD, Joung JK (2014) CRISPR-Cas systems for editing, regulating and targeting genomes. Nat Biotechnol 32(4):347\u2013355. doi:\n10.1038\/nbt.2842","journal-title":"Nat Biotechnol"},{"issue":"9","key":"19_CR17","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1002\/humu.20526","volume":"28","author":"CR Scriver","year":"2007","unstructured":"Scriver CR (2007) The PAH gene, phenylketonuria, and a paradigm shift. Hum Mutat 28(9):831\u2013845. doi:\n10.1002\/humu.20526","journal-title":"Hum Mutat"},{"issue":"5","key":"19_CR18","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1007\/s10545-008-0984-9","volume":"31","author":"CR Scriver","year":"2008","unstructured":"Scriver CR (2008) Garrod\u2019s croonian lectures (1908) and the charter \u2018Inborn Errors of Metabolism\u2019: albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis 31(5):580\u2013598. doi:\n10.1007\/s10545-008-0984-9","journal-title":"J Inherit Metab Dis"},{"issue":"12","key":"19_CR19","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1203\/00006450-198412000-00023","volume":"18","author":"E Stoner","year":"1984","unstructured":"Stoner E, Starkman H, Wellner D, Wellner VP, Sassa S, Rifkind AB, Grenier A, Steinherz PG, Meister A, New MI et al (1984) Biochemical studies of a patient with hereditary hepatorenal tyrosinemia: evidence of glutathione deficiency. Pediatr Res 18(12):1332\u20131336","journal-title":"Pediatr Res"},{"issue":"2","key":"19_CR20","doi-asserted-by":"publisher","first-page":"263","DOI":"10.1007\/s10545-011-9394-5","volume":"35","author":"E Thimm","year":"2012","unstructured":"Thimm E, Richter-Werkle R, Kamp G, Molke B, Herebian D, Klee D, Mayatepek E, Spiekerkoetter U (2012) Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis 35(2):263\u2013268. doi:\n10.1007\/s10545-011-9394-5","journal-title":"J Inherit Metab Dis"},{"key":"19_CR21","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1007\/8904_2011_88","volume":"5","author":"A Vanclooster","year":"2012","unstructured":"Vanclooster A, Devlieger R, Meersseman W, Spraul A, Kerckhove KV, Vermeersch P, Meulemans A, Allegaert K, Cassiman D (2012) Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experience. JIMD Rep 5:27\u201333. doi:\n10.1007\/8904_2011_88","journal-title":"JIMD Rep"},{"key":"19_CR22","volume-title":"Acute intermittent porphyria","author":"SD Whatley","year":"1993","unstructured":"Whatley SD, Badminton MN (1993) In: Pagon RA, Adam MP, Ardinger HH et al (eds) Acute intermittent porphyria. GeneReviews, Seattle"},{"issue":"3","key":"19_CR23","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/nbt.3471","volume":"34","author":"H Yin","year":"2016","unstructured":"Yin H, Song CQ, Dorkin JR, Zhu LJ, Li Y, Wu Q, Park A, Yang J, Suresh S, Bizhanova A, Gupta A, Bolukbasi MF, Walsh S, Bogorad RL, Gao G, Weng Z, Dong Y, Koteliansky V, Wolfe SA, Langer R, Xue W, Anderson DG (2016) Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo. Nat Biotechnol 34(3):328\u2013333. doi:\n10.1038\/nbt.3471","journal-title":"Nat Biotechnol"},{"issue":"6","key":"19_CR24","doi-asserted-by":"publisher","first-page":"551","DOI":"10.1038\/nbt.2884","volume":"32","author":"H Yin","year":"2014","unstructured":"Yin H, Xue W, Chen S, Bogorad RL, Benedetti E, Grompe M, Koteliansky V, Sharp PA, Jacks T, Anderson DG (2014) Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype. Nat Biotechnol 32(6):551\u2013553. doi:\n10.1038\/nbt.2884","journal-title":"Nat Biotechnol"}],"container-title":["Advances in Experimental Medicine and Biology","Hereditary Tyrosinemia"],"original-title":[],"link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-319-55780-9_19","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,7,28]],"date-time":"2017-07-28T08:18:18Z","timestamp":1501229898000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/978-3-319-55780-9_19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"ISBN":["9783319557793","9783319557809"],"references-count":24,"URL":"https:\/\/doi.org\/10.1007\/978-3-319-55780-9_19","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}