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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. ...Newborn screening (NBS) util …
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure wit …
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Halac U, Dubois J, Mitchell GA. Halac U, et al. Adv Exp Med Biol. 2017;959:75-83. doi: 10.1007/978-3-319-55780-9_6. Adv Exp Med Biol. 2017. PMID: 28755185 Review.
In screened newborns treated within the first month of life, we have not observed hepatocarcinoma. If patients are not detected at birth by neonatal screening, the diagnosis and treatment must be performed on an emergency basis, and patients are at risk for complications. …
In screened newborns treated within the first month of life, we have not observed hepatocarcinoma. If patients are not detected at bi …
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.
In tyrosinemia Type I, methionine is also elevated, reflecting impaired hepatocellular function. Urine organic acids show elevated p-hydroxy-phenyl organic acids in each type of tyrosinemia, and the pathognomic succinylacetone in tyrosinemia Type …
In tyrosinemia Type I, methionine is also elevated, reflecting impaired hepatocellular function. Urine organic acids sh …
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. ...Both indirect and direct SA measurement as the initial HTI screening test proved to be highly sensitive and specific, wit …
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. ...Mouse models of t …
Hypertyrosinemia encompasses several entities, of which tyrosinemia type I (or hepatorenal tyrosinemia, HT1) results in …
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
Fernández-Lainez C, Ibarra-González I, Belmont-Martínez L, Monroy-Santoyo S, Guillén-López S, Vela-Amieva M. Fernández-Lainez C, et al. Ann Hepatol. 2014 Mar-Apr;13(2):265-72. Ann Hepatol. 2014. PMID: 24552869 Free article.
CONCLUSION: The devastating natural history of HT1 is still observed in Mexican patients because they are not diagnosed and treated during the early stages of the disease....
CONCLUSION: The devastating natural history of HT1 is still observed in Mexican patients because they are not diagnosed and treated d …
Living-donor liver transplantation for children with tyrosinemia type I.
Liu Y, Luo Y, Xia L, Qiu BJ, Zhou T, Feng MX, Xue F, Chen XS, Han LS, Zhang JJ, Xia Q. Liu Y, et al. J Dig Dis. 2020 Mar;21(3):189-194. doi: 10.1111/1751-2980.12846. Epub 2020 Feb 25. J Dig Dis. 2020. PMID: 31953907
OBJECTIVE: To evaluate the efficacy of living-donor liver transplantation (LDLT) in children with tyrosinemia type I. METHODS: Altogether 10 patients diagnosed with tyrosinemia type I underwent LDLT between June 2013 and April 2019. ...Di …
OBJECTIVE: To evaluate the efficacy of living-donor liver transplantation (LDLT) in children with tyrosinemia type I. M …
Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I.
Daly A, Evans S, Pinto A, Ashmore C, MacDonald A. Daly A, et al. Nutrients. 2021 Sep 16;13(9):3224. doi: 10.3390/nu13093224. Nutrients. 2021. PMID: 34579102 Free PMC article.
Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supplemented with a Tyr/Phe-free protein substitute (PS). ...Normal height, weight and BMI z scores were maintained over 12 months. CONCL …
Tyrosinemia type I (HTI) is treated with nitisinone, a tyrosine (Tyr) and phenylalanine (Phe)-restricted diet, and supp …
MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients.
Karatas OF, Guzel E, Karaca E, Sevli S, Soyucen E, Yuksel A, Ozen M. Karatas OF, et al. Mol Biol Rep. 2013 Jul;40(7):4619-23. doi: 10.1007/s11033-013-2555-x. Epub 2013 May 7. Mol Biol Rep. 2013. PMID: 23649765
Tyrosinemia type-I results from lack of fumarylacetoacetate hydrolase (FAH), which is a liver enzyme and also shown to be present in lymphocytes, fibroblasts, and cultured amniotic fluid cells. ...We studied 6 patients with classical phenotypes of Tyrosine …
Tyrosinemia type-I results from lack of fumarylacetoacetate hydrolase (FAH), which is a liver enzyme and also shown to …
Caregiver Quality of Life with Tyrosinemia Type 1.
Campbell H, Singh RH, Hall E, Ali N. Campbell H, et al. J Genet Couns. 2018 Jun;27(3):723-731. doi: 10.1007/s10897-017-0157-9. Epub 2017 Nov 6. J Genet Couns. 2018. PMID: 29110168
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong specialized diet and use of the orphan drug, nitisinone. ...Domain scores for practical and social aspects were similarly higher for HT1 tha …
Tyrosinemia type I (HT1) is an inborn error of metabolism (IEM). Current management guidelines include lifelong special …
33 results