The DOI matches its Crossref record; 78 of the 78 references it cites were found in a registry or an index.
The Pathophysiology and Treatment of Hereditary Tyrosinemia Type 1
Abstract
The topic of this review is hepatorenal tyrosinemia (hereditary tyrosinemia type 1 [HT1], or fumarylacetoacetate hydrolase deficiency; OMIM# 276700). HT1 is the most serious and common of the genetic defects in tyrosine degradation. In addition, this disorder has importance as a model of spontaneous self-correction of liver disease, as a model of liver repopulation by transplanted cells and gene therapy, and as a genetic cause of hepatocarcinoma. However, other forms of hypertyrosinemia exist; hence, the differential diagnosis also will be described briefly. Recent years have seen much progress in our understanding of the molecular basis, the pathophysiology, and especially the treatment of HT1. The current intervention with 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) therapy has improved the outcome of this once devastating disorder. The successful repopulation of the HT1 liver with transplanted cells and positive results in the use of gene therapy in animal models may someday lead to therapy in humans that will obviate the need for life-long dietary and pharmacological therapy.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“When a FAH deficiency exists, toxic metabolites such as fumarylacetoacetate accumulate in hepatocytes and renal proximal tubules causing death in a cell-autonomous manner.22”
From Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡ (2010) · cites this paper as [22]
Citations
Cites
Purified hematopoietic stem cells can differentiate into hepatocytes in vivo
Lagasse, E., Connors, H., Al-Dhalimy, M., Reitsma, M., Dohse, M., Osborne, L., Wang, X., Finegold, M., Weissman, I. L., & Grompe, M. (2000) · Nature Medicine · doi:10.1038/81326 · Cited by 2,314
Self-citationNebert, D. W., Roe, A. L., Dieter, M. Z., Solis, W. A., Yang, Y., & Dalton, T. P. (2000) · Biochemical Pharmacology · doi:10.1016/s0006-2952(99)00310-x · Cited by 1,008
THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.
Garrod, A. (1902) · The Lancet · doi:10.1016/s0140-6736(01)41972-6 · Cited by 800
Mammalian Genes Coordinately Regulated by Growth Arrest Signals and DNA-Damaging Agents
Fornace, A. J., Nebert, D. W., Hollander, M. C., Luethy, J. D., Papathanasiou, M., Fargnoli, J., & Holbrook, N. J. (1989) · Molecular and Cellular Biology · doi:10.1128/mcb.9.10.4196 · Cited by 694
Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
LINDSTEDT, S. (1992) · The Lancet · doi:10.1016/0140-6736(92)92685-9 · Cited by 631
Serial transplantation reveals the stem-cell-like regenerative potential of adult mouse hepatocytes.
Overturf, K., Al-Dhalimy, M., Ou, C. N., Finegold, M. J., & Grompe, M. (1997) · Europe PMC (PubMed Central) · Cited by 599
Self-citationOverturf, K., Al-Dhalimy, M., Tanguay, R., Brantly, M., Ou, C.-N., Finegold, M., & Grompe, M. (1996) · Nature Genetics · doi:10.1038/ng0396-266 · Cited by 549
Self-citationOn the enzymic defects in hereditary tyrosinemia.
Lindblad, B., Lindstedt, S., & Steen, G. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.10.4641 · Cited by 447
Grompe, M., al-Dhalimy, M., Finegold, M., Ou, C. N., Burlingame, T., Kennaway, N. G., & Soriano, P. (1993) · Genes & Development · doi:10.1101/gad.7.12a.2298 · Cited by 355
Self-citationTHE NATURE OF THE DEFECT IN TYROSINE METABOLISM IN ALCAPTONURIA
Du, B. N. L., Zannoni, V. G., Laster, L., & Seegmiller, J. E. (1958) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)70560-7 · Cited by 353
Flagged first, then by citations
Cited by
Sorted by citations
Lee, W. M., Squires, R. H., Nyberg, S. L., Doo, E. C., & Hoofnagle, J. H. (2008) · Hepatology · doi:10.1002/hep.22177 · Cited by 769
Altered metabolite levels in cancer: implications for tumour biology and cancer therapy
Sullivan, L. B., Gui, D. Y., & Heiden, M. G. V. (2016) · Nature Reviews Cancer · doi:10.1038/nrc.2016.85 · Cited by 406
Arias‐Barrau, E., Olivera, E. R., Luengo, J. M., Fernández, C., Galán, B., García, J. L., Díaz, E., & Miñambres, B. (2004) · Journal of Bacteriology · doi:10.1128/jb.186.15.5062-5077.2004 · Cited by 266
Chinsky, J. M., Singh, R., Ficicioglu, C., van Karnebeek, C. D. M., Grompe, M., Mitchell, G., Waisbren, S. E., Gucsavas-Calikoglu, M., Wasserstein, M. P., Coakley, K., et al. (2017) · Genetics in Medicine · doi:10.1038/gim.2017.101 · Cited by 247
Self-citationA journey of hope: lessons learned from studies on rare diseases and orphan drugs
Wästfelt, M., Fadeel, B., & Henter, J. (2006) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2006.01666.x · Cited by 184
Metadata
- Authors
- Grompe, M.
- Affiliations
- Oregon Health & Science University (US)
- Corresponding author
- Grompe, Markus
- ORCID
- Grompe, Markus
- Venue
- Seminars in Liver Disease
- Publisher
- Georg Thieme Verlag KG
- Published
- 2001
- Volume
- 21
- Issue
- 04
- Pages
- 563-572
- ISSN
- 0272-8087 (ISSN-L)
- 1098-8971
- OpenAlex
- W2022449977
- Semantic Scholar
- b052e17377cc56df7ac16c995702a40e45e433db
- Cited by
- 167
- References
- 78
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 6 · 2023: 3 · 2022: 6 · 2021: 7 · 2020: 10 · 2019: 5 · 2018: 6 · 2017: 9 · 2016: 6 · 2015: 7 · 2014: 3 · 2013: 3 · 2012: 9
- FWCI
- 3.08
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Seminars in Liver Disease (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- tyrosinemia type I, fumarylacetoacetate hydrolase deficiency, tyrosine degradation, liver transplantation, gene therapy, hepatocellular carcinoma, hypertyrosinemia, differential diagnosis, pathophysiology, dietary therapy
- MeSH terms
- Animals, Humans, Infant, Newborn, Tyrosinemias, Mice
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
