Research & Literature
Explore the leading researchers and institutions driving advances in this area, and dive into the full body of literature that informs this resource.
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Centre Hospitalier Universitaire Sainte-Justine
Montreal, Canada
University Medical Center Groningen
Groningen, The Netherlands
Oregon Health & Science University
Portland, United States
Amsterdam UMC Location University of Amsterdam
Amsterdam, The Netherlands
Albert Einstein College of Medicine
Bronx, United States
References
References (18)
- 1
Corneal Pseudodendritic Lesions Masquerading as Herpetic Keratitis in a Patient With Tyrosinemia Type I.
Gulmez Sevim D, Gumus K, Cavanagh HD
Eye & contact lens 2017; (43(3)):e7-e9 doi:10.1097/ICL.0000000000000187.
PMID: 26322918 - 2
Tyrosinemia type II: Novel mutations in TAT in a boy with unusual presentation.
Gokay S, Kendirci M, Ustkoyuncu PS, et al.
Pediatrics international : official journal of the Japan Pediatric Society 2016; (58(10)):1069-1072 doi:10.1111/ped.13062.
PMID: 27285949 - 3
Characteristics, tissue-specific expression, and hormonal regulation of expression of tyrosine aminotransferase in the avian female reproductive tract.
Lim W, Song G
Domestic animal endocrinology 2016; (57()):10-20.
PMID: 27295280 - 4
Predicting tyrosinaemia: a mathematical model of 4-hydroxyphenylpyruvate dioxygenase inhibition by nitisinone in rats.
Ward JP, Dunster JL, Derks G, et al.
Mathematical medicine and biology : a journal of the IMA 2017; (34(3)):335-390 doi:10.1093/imammb/dqw006.
PMID: 27305933 - 5
Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.
Soares DC, Stroparo MN, Lian YC, et al.
Journal of inherited metabolic disease 2017; (40(3)):461-462 doi:10.1007/s10545-016-9996-z.
PMID: 27832414 - 6
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Peña-Quintana L, Scherer G, Curbelo-Estévez ML, et al.
Clinical genetics 2017; (92(3)):306-317 doi:10.1111/cge.13003.
PMID: 28255985 - 7
Clinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1).
Das AM
The application of clinical genetics 2017; (10()):43-48 doi:10.2147/TACG.S113310.
PMID: 28769581 - 8
Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, et al.
Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(12)) doi:10.1038/gim.2017.101.
PMID: 28771246 - 9
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical Suspicion.
White A, C Tchan M
JIMD reports 2018; (40()):7-9 doi:10.1007/8904_2017_56.
PMID: 28879639 - 10
Neurological Crises after Discontinuation of Nitisinone (NTBC) Treatment in Tyrosinemia.
Honar N, Shakibazad N, Serati Shirazi Z, et al.
Iranian journal of child neurology 2017; (11(4)):66-70.
PMID: 29201126 - 11
Long-Term Outcomes and Practical Considerations in the Pharmacological Management of Tyrosinemia Type 1.
van Ginkel WG, Rodenburg IL, Harding CO, et al.
Paediatric drugs 2019; (21(6)):413-426 doi:10.1007/s40272-019-00364-4.
PMID: 31667718 - 12
[Screening for hereditary tyrosinemia and genotype analysis in newborns].
Tong F, Yang R, Liu C, et al.
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2019; (48(4)):459-464 doi:10.3785/j.issn.1008-9292.2019.08.18.
PMID: 31901053 - 13
Bilateral dendriform ulcer leading to an early diagnosis of tyrosinemia type 2.
Martin GC, de Lonlay P, Chapron T, et al.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2020; (24(2)):120-122 doi:10.1016/j.jaapos.2019.12.007.
PMID: 32018000 - 14
A child with dendritiform eye lesions and developmental delay.
Gliagias V, Denisova K, Kang JJ
American journal of ophthalmology case reports 2022; (28()):101701 doi:10.1016/j.ajoc.2022.101701.
PMID: 36118278 - 15
An Infant with Bilateral Keratitis: From Infectious to Genetic Diagnosis.
Thibault LP, Mitchell GA, Parisien B, et al.
The American journal of case reports 2022; (23()):e937967 doi:10.12659/AJCR.937967.
PMID: 36447403 - 16
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide.
Kuypers AM, Bouva MJ, Loeber JG, et al.
International journal of neonatal screening 2024; (10(4)) doi:10.3390/ijns10040082.
PMID: 39728402 - 17
Behavioral Alterations and Cholinergic Modulation in Zebrafish Acutely Exposed To Tyrosine.
da Silva Lemos I, de Vasconcelos FFP, da Silva Lodetti G, et al.
Neurotoxicity research 2025; (43(6)):44 doi:10.1007/s12640-025-00764-0.
PMID: 41117875 - 18
Case Report: Type II tyrosinemia caused by mutations at the c.843_844 inv p.(Trp282Gly) variant locus.
Tong F, Peng M, Meng L, et al.
Frontiers in genetics 2026; (17()):1753440 doi:10.3389/fgene.2026.1753440.
PMID: 41890226