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1986
2025

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Year Number of Results
1986 1
1987 1
1990 1
1993 1
1995 2
1996 1
1997 1
1998 2
1999 1
2000 4
2001 4
2002 4
2003 2
2005 2
2006 3
2007 1
2008 1
2009 2
2010 1
2011 4
2012 1
2013 1
2014 2
2015 4
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2017 24
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2025 1

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85 results

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Page 1
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Chinsky JM, et al. Genet Med. 2017 Dec;19(12). doi: 10.1038/gim.2017.101. Epub 2017 Aug 3. Genet Med. 2017. PMID: 28771246 Free PMC article. Review.
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. ...
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure wit
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients.
van Ginkel WG, Jahja R, Huijbregts SCJ, van Spronsen FJ. van Ginkel WG, et al. Adv Exp Med Biol. 2017;959:111-122. doi: 10.1007/978-3-319-55780-9_10. Adv Exp Med Biol. 2017. PMID: 28755189 Review.
Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. ...
Clinically, Hereditary Tyrosinemia type I (HTI) is especially characterized by severe liver dysfunction in early life. …
Hepatorenal tyrosinemia.
Kitagawa T. Kitagawa T. Proc Jpn Acad Ser B Phys Biol Sci. 2012;88(5):192-200. doi: 10.2183/pjab.88.192. Proc Jpn Acad Ser B Phys Biol Sci. 2012. PMID: 22687740 Free PMC article. Review.
Dietary Considerations in Tyrosinemia Type I.
van Spronsen FJ, van Rijn M, Meyer U, Das AM. van Spronsen FJ, et al. Adv Exp Med Biol. 2017;959:197-204. doi: 10.1007/978-3-319-55780-9_18. Adv Exp Med Biol. 2017. PMID: 28755197 Review.
The genetic tyrosinemias.
Scott CR. Scott CR. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):121-6. doi: 10.1002/ajmg.c.30092. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602095 Review.
Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyrosinemia Type I. Diagnosis can be confirmed by enzyme or molecular studies in tyrosinemia Type I. Ther …
Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyro
TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW.
Barroso F, Correia J, Bandeira A, Carmona C, Vilarinho L, Almeida M, Rocha JC, Martins E. Barroso F, et al. Rev Paul Pediatr. 2020 Jun 5;38:e2018158. doi: 10.1590/1984-0462/2020/38/2018158. eCollection 2020. Rev Paul Pediatr. 2020. PMID: 32520295 Free PMC article. Review.
Diagnosis and management of tyrosinemia type I.
Holme E, Lindstedt S. Holme E, et al. Curr Opin Pediatr. 1995 Dec;7(6):726-32. doi: 10.1097/00008480-199512000-00017. Curr Opin Pediatr. 1995. PMID: 8776026 Review.
Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (EC 3.7.1.2), which is the last enzyme in the tyrosine degradation pathway. ...
Hereditary tyrosinemia type I (HTI) (MIM 276700) is an autosomal recessive disorder caused by deficiency of fumarylacet …
Newborn Screening for Hereditary Tyrosinemia Type I in Quebec: Update.
Giguère Y, Berthier MT. Giguère Y, et al. Adv Exp Med Biol. 2017;959:139-146. doi: 10.1007/978-3-319-55780-9_13. Adv Exp Med Biol. 2017. PMID: 28755192 Review.
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (FAH) deficiency. ...
Hereditary tyrosinemia type I (HTI) is a rare autosomal recessive disorder caused by a fumarylacetoacetate hydrolase (F …
Tyrosinemia: a review.
Russo PA, Mitchell GA, Tanguay RM. Russo PA, et al. Pediatr Dev Pathol. 2001 May-Jun;4(3):212-21. doi: 10.1007/s100240010146. Pediatr Dev Pathol. 2001. PMID: 11370259 Review.
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in the most extensive clinical and pathological manifestations involving mainly the liver, kidney, and peripheral nerves. ...
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in …
85 results