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Items: 1 to 20 of 192

1.
Casein Glycomacropeptide: An Alternative Protein Substitute in Tyrosinemia Type I
Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald
Nutrients. 2021 Sep; 13(9): 3224. Published online 2021 Sep 16. doi: 10.3390/nu13093224
PMCID:
PMC8467066
ArticlePDF–533K
2.
Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I
Peng Gu, Qin Yang, Bangzhu Chen, Ya-nan Bie, Wen Liu, Yuguang Tian, Hongquan Luo, Tao Xu, Chunjin Liang, Xing Ye, Yan Liu, Xiangwu Tang, Weiwang Gu
Mol Ther Methods Clin Dev. 2021 Jun 11; 21: 530–547. Published online 2021 Apr 9. doi: 10.1016/j.omtm.2021.04.002
PMCID:
PMC8099604
ArticlePDF–5.2M
3.
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
Jon Gil-Martínez, Iratxe Macias, Luca Unione, Ganeko Bernardo-Seisdedos, Fernando Lopitz-Otsoa, David Fernandez-Ramos, Ana Lain, Arantza Sanz-Parra, José M Mato, Oscar Millet
Int J Mol Sci. 2021 Feb; 22(4): 1789. Published online 2021 Feb 11. doi: 10.3390/ijms22041789
PMCID:
PMC7916972
ArticlePDF–1.2M
4.
The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening
Jessica R. C. Priestley, Hana Alharbi, Katharine Press Callahan, Herodes Guzman, Irma Payan-Walters, Ligia Smith, Can Ficicioglu, Rebecca D. Ganetzky, Rebecca C. Ahrens-Nicklas
Int J Neonatal Screen. 2020 Jun; 6(2): 39. Published online 2020 May 16. doi: 10.3390/ijns6020039
PMCID:
PMC7422996
ArticlePDF–937K
5.
Hereditary tyrosinemia type I–associated mutations in fumarylacetoacetate hydrolase reduce the enzyme stability and increase its aggregation rate
Iratxe Macias, Ana Laín, Ganeko Bernardo-Seisdedos, David Gil, Esperanza Gonzalez, Juan M. Falcon-Perez, Oscar Millet
J Biol Chem. 2019 Aug 30; 294(35): 13051–13060. Published online 2019 Jul 12. doi: 10.1074/jbc.RA119.009367
PMCID:
PMC6721957
ArticlePDF–2.0M
6.
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations
Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley, C Ronald Scott
Genet Med. 2017 Dec; 19(12) Published online 2017 Aug 3. doi: 10.1038/gim.2017.101
PMCID:
PMC5729346
ArticlePDF–392K
7.
A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
Iran J Pediatr. 2016 Oct; 26(5): e4624. Published online 2016 Feb 27. doi: 10.5812/ijp.4624
PMCID:
PMC5294451
ArticlePDF–89K
8.
A Case Report of a Very Rare Association of Tyrosinemia type I and Pancreatitis Mimicking Neurologic Crisis of Tyrosinemia Type I
Habibe Koç Uçar, Gökhan Tümgör, Deniz Kör, Fatih Kardaş, Neslihan Önenli Mungan
Balkan Med J. 2016 May; 33(3): 370–372. Published online 2016 May 1. doi: 10.5152/balkanmedj.2016.141074
PMCID:
PMC4899002
ArticlePDF–278K
9.
Experience of a Single Center in NTBC Use in Management of Hereditary Tyrosinemia Type I in Libya
Hanna Alobaidy, Emna Barkaoui
Iran J Pediatr. 2015 Oct; 25(5): e3608. Published online 2015 Oct 6. doi: 10.5812/ijp.3608
PMCID:
PMC4610339
ArticlePDF–554K
10.
Succinylacetone as Primary Marker to Detect Tyrosinemia Type I in Newborns and its Measurement by Newborn Screening Programs
Víctor R. De Jesús, Barbara W. Adam, Daniel Mandel, Carla D. Cuthbert, Dietrich Matern
Mol Genet Metab. Author manuscript; available in PMC 2015 Sep 1.
Published in final edited form as: Mol Genet Metab. 2014 Sep-Oct; 113(0): 67–75. Published online 2014 Jul 17. doi: 10.1016/j.ymgme.2014.07.010
PMCID:
PMC4533100
ArticlePDF–592K
11.
Cost–Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I
Mariève Simoncelli, Johanne Samson, Jean-François Bussières, Jacques Lacroix, Marc Dorais, Renaldo Battista, Sylvie Perreault
Can J Hosp Pharm. 2015 May-Jun; 68(3): 210–217.
PMCID:
PMC4485508
ArticlePDF–729K
12.
Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I
Francesca Angileri, Geneviève Morrow, Vincent Roy, Diana Orejuela, Robert M. Tanguay
Cancers (Basel) 2014 Jun; 6(2): 998–1019. Published online 2014 Apr 23. doi: 10.3390/cancers6020998
PMCID:
PMC4074813
ArticlePDF–1.0M
13.
Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential
Giancarlo la Marca, Sabrina Malvagia, Elisabetta Pasquini, Catia Cavicchi, Amelia Morrone, Federica Ciani, Silvia Funghini, Fabio Villanelli, Enrico Zammarchi, Renzo Guerrini
JIMD Rep. 2011; 1: 107–109. Published online 2011 Jun 22. doi: 10.1007/8904_2011_24
PMCID:
PMC3509819
ArticlePDF–60K
14.
Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease
A. Dursun, R. K. Özgül, S. Sivri, A. Tokatlı, A. Güzel, L. Mesci, M. Kılıç, D. Aliefendioglu, F. Özçay, M. Gündüz, T. Coşkun
JIMD Rep. 2011; 1: 17–21. Published online 2011 Jun 22. doi: 10.1007/8904_2011_10
PMCID:
PMC3509809
ArticlePDF–74K
15.
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
David Cassiman, Renate Zeevaert, Elisabeth Holme, Eli-Anne Kvittingen, Jaak Jaeken
Orphanet J Rare Dis. 2009; 4: 28. Published online 2009 Dec 15. doi: 10.1186/1750-1172-4-28
PMCID:
PMC2802351
ArticlePDF–1.3M
16.
Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.
H. Rootwelt, E. Brodtkorb, E. A. Kvittingen
Am J Hum Genet. 1994 Dec; 55(6): 1122–1127.
PMCID:
PMC1918441
SummaryPage BrowsePDF–1.0M
17.
Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.
S. I. Demers, D. Phaneuf, R. M. Tanguay
Am J Hum Genet. 1994 Aug; 55(2): 327–333.
PMCID:
PMC1918381
SummaryPage BrowsePDF–1.2M
18.
DNA ploidy abnormalities in the liver of children with hereditary tyrosinemia type I. Correlation with histopathologic features.
C. Zerbini, D. S. Weinberg, K. A. Hollister, A. R. Perez-Atayde
Am J Pathol. 1992 May; 140(5): 1111–1119.
PMCID:
PMC1886502
SummaryPage BrowsePDF–2.4M
19.
Oral loading of homogentisic acid in controls and in obligate heterozygotes for hereditary tyrosinemia type I.
C Laberge, A Lescault, A Grenier, J Morrisette, R Gagné, P Gadbois, J Halket
Am J Hum Genet. 1990 Aug; 47(2): 329–337.
PMCID:
PMC1683732
SummaryPage BrowsePDF–1.6M
20.
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).
R M Tanguay, J P Valet, A Lescault, J L Duband, C Laberge, F Lettre, M Plante
Am J Hum Genet. 1990 Aug; 47(2): 308–316.
PMCID:
PMC1683717
SummaryPage BrowsePDF–2.0M

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