The pathophysiology and treatment of hereditary tyrosinemia type 1

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 · see citing works

Role of the aromatic hydrocarbon receptor and [Ah] gene battery in the oxidative stress response, cell cycle control, and apoptosis

Nebert, 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 997 · see citing works

THE INCIDENCE OF ALKAPTONURIA : A STUDY IN CHEMICAL INDIVIDUALITY.

Garrod, A. (1902) · The Lancet · doi:10.1016/s0140-6736(01)41972-6 · Cited by 792 · see citing works

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 705 · see citing works

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 · see citing works

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 · see citing works

Hepatocytes corrected by gene therapy are selected in vivo in a murine model of hereditary tyrosinaemia type I

Overturf, 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 · see citing works

On 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 · see citing works

Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice

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 · see citing works

THE 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 · see citing works

The molecular basis of alkaptonuria

Fernández-Cañón, J. M., Granadino, B., de Bernabé, D. B.-V., Renedo, M., Fernández‐Ruiz, E., Peñalva, M. A., & de Córdoba, S. R. (1996) · Nature Genetics · doi:10.1038/ng0996-19 · Cited by 327 · see citing works

Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinaemia type I

Grompe, M., Lindstedt, S., Al-Dhalimy, M., Kennaway, N. G., Papaconstantinou, J., Torres-Ramos, C. A., Ou, C.-N., & Finegold, M. (1995) · Nature Genetics · doi:10.1038/ng0895-453 · Cited by 312 · see citing works

Tyrosinaemia type I and NTBC (2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione)

Holme, E., & Lindstedt, S. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005410820201 · Cited by 264 · see citing works

Neurologic Crises in Hereditary Tyrosinemia

Mitchell, G. A., Larochelle, J., Lambert, M. A., Michaud, J., Grenier, A., de Baulny, H. O., Gauthier, M., Lacroix, J., Vanasse, M., Larbrisseau, A., et al. (1990) · New England Journal of Medicine · doi:10.1056/nejm199002153220704 · Cited by 230 · see citing works

Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse

Gluecksohn-Waelsch, S. (1979) · Cell · doi:10.1016/0092-8674(79)90001-1 · Cited by 218 · see citing works

The Repopulation Potential of Hepatocyte Populations Differing in Size and Prior Mitotic Expansion

Overturf, K., Al-Dhalimy, M., Finegold, M. J., & Grompe, M. (1999) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)65531-9 · Cited by 202 · see citing works

Characterization of a Fungal Maleylacetoacetate Isomerase Gene and Identification of Its Human Homologue

Fernández-Cañón, J. M., & Peñalva, M. A. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.1.329 · Cited by 185 · see citing works

Self-induced correction of the genetic defect in tyrosinemia type I.

Kvittingen, E. A., Rootwelt, H., Berger, R., & Brandtzaeg, P. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117509 · Cited by 168 · see citing works

Genetic epidemiology of hereditary tyrosinemia in Quebec and in Saguenay-Lac-St-Jean.

(1990) · Europe PMC (PubMed Central) · Cited by 163 · see citing works

Two genetically defined trans-acting loci coordinately regulate overlapping sets of liver-specific genes

Ruppert, S., Boshart, M., Bosch, F. X., Schmid, W., Fournier, R. E. K., & Schütz, G. (1990) · Cell · doi:10.1016/0092-8674(90)90200-x · Cited by 139 · see citing works

A Single Mutation of the Fumarylacetoacetate Hydrolase Gene in French Canadians with Hereditary Tyrosinemia Type I

Grompe, M., St.-Louis, M., Demers, S. I., Al-Dhalimy, M., Leclerc, B., & Tanguay, R. M. (1994) · New England Journal of Medicine · doi:10.1056/nejm199408113310603 · Cited by 135 · see citing works

Molecular Characterization of a Gene Encoding a Homogentisate Dioxygenase from Aspergillus nidulans and Identification of Its Human and Plant Homologues

Fernández-Cañón, J. M., & Peñalva, M. A. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.36.21199 · Cited by 135 · see citing works

The Mutagenicity of the Tyrosine Metabolite, Fumarylacetoacetate, Is Enhanced by Glutathione Depletion

Jorquera, R., & Tanguay, R. M. (1997) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1997.6220 · Cited by 119 · see citing works

Liver Repopulation and Correction of Metabolic Liver Disease by Transplanted Adult Mouse Pancreatic Cells

Wang, X., Al-Dhalimy, M., Lagasse, E., Finegold, M. J., & Grompe, M. (2001) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63999-5 · Cited by 117 · see citing works

Hereditary tyrosinemia type I--an overview.

Kvittingen, E. A. (1986) · PubMed · Cited by 109 · see citing works

From toxicological problem to therapeutic use: The discovery of the mode of action of 2‐(2‐nitro‐4‐trifluoromethylbenzoyl)‐1,3‐cyclohexanedione (NTBC), its toxicology and development as a drug

Lock, E. A., Ellis, M. K., Gaskin, P., Robinson, M., Auton, T. R., Provan, W. M., Smith, L. L., Prisbylla, M. P., Mutter, L. C., & Lee, D. L. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005458703363 · Cited by 108 · see citing works

Hereditary tyrosinemia type I: Self-induced correction of the fumarylacetoacetase defect

Kvittingen, E. A., Rootwelt, H., Brandtzaeg, P., Bergan, A., & Berger, R. (1993) · Journal of Clinical Investigation · doi:10.1172/jci116393 · Cited by 102 · see citing works

Visceral pathology of hereditary tyrosinemia type I.

Russo, P., & O’Regan, S. (1990) · PubMed · Cited by 97 · see citing works

Principles of Therapeutic Liver Repopulation

Grompe, M., Laconi, E., & Shafritz, D. A. (1999) · Seminars in Liver Disease · doi:10.1055/s-2007-1007093 · Cited by 97 · see citing works

HOMOGENTISATE OXIDASE OF LIVER

Knox, W. E., & Edwards, S. W. (1955) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)81406-0 · Cited by 93 · see citing works

A Defect in the Metabolism of Aromatic Amino Acids in Premature Infants: The Role of Vitamin C

LEVINE, S. Z., Marples, E., & Gordon, H. H. (1939) · Science · doi:10.1126/science.90.2348.620 · Cited by 89 · see citing works

HOMOGENTISATE METABOLISM: THE ISOMERIZATION OF MALEYLACETOACETATE BY AN ENZYME WHICH REQUIRES GLUTATHIONE

Edwards, S. W., & Knox, W. E. (1956) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)65334-7 · Cited by 83 · see citing works

Crystal structure and mechanism of a carbon–carbon bond hydrolase

Timm, D. E., Mueller, H. A., Bhanumoorthy, P., Harp, J. M., & Bunick, G. J. (1999) · Structure · doi:10.1016/s0969-2126(99)80170-1 · Cited by 82 · see citing works

Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors

Kubo, S., Sun, M., Miyahara, M., Umeyama, K., Urakami, K.-I., Yamamoto, T., Jakobs, C., Matsuda, I., & Endo, F. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.16.9552 · Cited by 77 · see citing works

Adenovirus-Mediated Gene Therapy in a Mouse Model of Hereditary Tyrosinemia Type I

Overturf, K., Al-Dhalimy, M., Ou, C., Finegold, M. J., Tanguay, R. M., Lieber, A., Kay, M. A., & Grompe, M. (1997) · Human Gene Therapy · doi:10.1089/hum.1997.8.5-513 · Cited by 77 · see citing works

Ex Vivo Hepatic Gene Therapy of a Mouse Model of Hereditary Tyrosinemia Type I

Overturf, K., Al-Dhalimy, M., Manning, K., Ou, C., Finegold, M. J., & Grompe, M. (1998) · Human Gene Therapy · doi:10.1089/hum.1998.9.3-295 · Cited by 71 · see citing works

Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity

Labelle, Y., Phaneuf, D., Leclerc, B., & M.Tanguay, R. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.7.941 · Cited by 67 · see citing works

Fungal metabolic model for human type I hereditary tyrosinaemia.

Fernández-Cañón, J. M., & Peñalva, M. A. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.20.9132 · Cited by 65 · see citing works

Mechanistic Inferences from the Crystal Structure of Fumarylacetoacetate Hydrolase with a Bound Phosphorus-based Inhibitor

Bateman, R. L., Bhanumoorthy, P., Witte, J. F., McClard, R. W., Grompe, M., & Timm, D. E. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m007621200 · Cited by 63 · see citing works

Cyclin B‐dependent kinase and caspase‐1 activation precedes mitochondrial dysfunction in fumarylacetoacetate‐induced apoptosis

Jorquera, R., & Tanguay, R. M. (1999) · The FASEB Journal · doi:10.1096/fasebj.13.15.2284 · Cited by 60 · see citing works

Interaction between the Ah receptor and proteins binding to the AP-1-like electrophile response element (EpRE) during murine phase II [Ah] battery gene expression

Vasiliou, V., Puga, A., Chang, C., Tabor, M. W., & Nebert, D. W. (1995) · Biochemical Pharmacology · doi:10.1016/0006-2952(95)02108-6 · Cited by 60 · see citing works

Deletions near the albino locus on chromosome 7 of the mouse affect the level of tyrosine aminotransferase mRNA.

Schmid, W., Müller, G., Schütz, G., & Gluecksohn‐Waelsch, S. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.9.2866 · Cited by 57 · see citing works

Liver repopulation for the treatment of metabolic diseases

Grompe, M. (2001) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1010375203539 · Cited by 55 · see citing works

Different Clinical Forms of Hereditary Tyrosinemia (Type I) in Patients with Identical Genotypes

Poudrier, J., Lettre, F., Scriver, C. R., Larochelle, J., & Tanguay, R. M. (1998) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1998.2695 · Cited by 55 · see citing works

Therapeutic trials in the murine model of hereditary tyrosinaemia type I: A progress report

Grompe, M., Overturf, K., Al-Dhalimy, M., & Finegold, M. J. (1998) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005462804271 · Cited by 54 · see citing works

In vivo suppressor mutations correct a murine model of hereditary tyrosinemia type I

Manning, K., Al-Dhalimy, M., Finegold, M. J., & Grompe, M. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.21.11928 · Cited by 51 · see citing works

Identification of a stop mutation in five Finnish patients suffering from hereditary tyrosinemia type I

St-Louis, M., Leclerc, B., Laine, J., K.Salo, M., Holmberg, C., & Tanguay, R. M. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.1.69 · Cited by 50 · see citing works

Trans regulation of the phosphoenolpyruvate carboxykinase (GTP) gene, identified by deletions in chromosome 7 of the mouse.

Loose, D. S., Shaw, P. A., Krauter, K. S., Robinson, C. A., Englard, S., Hanson, R. W., & Gluecksohn‐Waelsch, S. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5184 · Cited by 50 · see citing works

Chronic Tyrosinemia Associated with 4-Hydroxyphenylpyruvate Dioxygenase Deficiency with Acute Intermittent Ataxia and without Visceral and Bone Involvement

Giardini, O., Cantani, A., Kennaway, N. G., & D’Eufemia, P. (1983) · Pediatric Research · doi:10.1203/00006450-198301000-00005 · Cited by 47 · see citing works

[38] Enzymes involved in conversion of tyrosine to acetoacetate

Knox, W. E. (1955) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(55)02202-7 · Cited by 46 · see citing works

Tyrosinemia Type 1 Should Be Suspected in Infants With Severe Coagulopathy Even in the Absence of Other Signs of Liver Failure

Croffie, J. M. B., Gupta, S. K., Chong, S. K. F., & Fitzgerald, J. F. (1999) · PEDIATRICS · doi:10.1542/peds.103.3.675 · Cited by 46 · see citing works

Richner-Hanhart syndrome (tyrosinaemia-II) (report of four cases without ocular involvement)

Rehák, A., Selim, M. M., & YADAV, G. (1981) · British Journal of Dermatology · doi:10.1111/j.1365-2133.1981.tb15320.x · Cited by 45 · see citing works

Tyrosinemia type III: diagnosis and ten‐year follow‐up

Cerone, R., Holme, E., Schiaffino, M., Caruso, U., Maritano, L., & Romano, C. (1997) · Acta Paediatrica · doi:10.1111/j.1651-2227.1997.tb15192.x · Cited by 44 · see citing works

A Mouse Model of Renal Tubular Injury of Tyrosinemia Type 1

SUN, M.-S., Hattori, S., Kubo, S., Awata, H., Matsuda, I., & Endo, F. (2000) · Journal of the American Society of Nephrology · doi:10.1681/asn.v112291 · Cited by 41 · see citing works

Marked increases in hepatic NAD(P)H:oxidoreductase gene transcription and mRNA levels correlated with a mouse chromosome 7 deletion.

Petersen, D. D., Gonzalez, F. J., Rapić, V., Kozak, C. A., Jong‐Youn, L. E. E., Jones, J. E., & Nebert, D. W. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.17.6699 · Cited by 38 · see citing works

In Vivo Selection of Hepatocytes Transduced with Adeno-Associated Viral Vectors

Chen, S. J., Tazelaar, J., Moscioni, A. D., & Wilson, J. M. (2000) · Molecular Therapy · doi:10.1006/mthe.2000.0065 · Cited by 36 · see citing works

The Richner-Hanhart Syndrome

Bienfang, D. C. (1976) · Archives of Ophthalmology · doi:10.1001/archopht.1976.03910040045009 · Cited by 30 · see citing works

Resolution of the clinical features of tyrosinemia following orthotopic liver transplantation for hepatoma

Thiel, D. H. V., Gartner, L. M., Thorp, F. K., Newman, S. L., Lindahl, J. A., Stoner, E., New, M. I., & Starzl, T. E. (1986) · Journal of Hepatology · doi:10.1016/s0168-8278(86)80144-1 · Cited by 30 · see citing works

Prenatal Diagnosis of Hereditary Tyrosinemia by Determination of Fumarylacetoacetase in Cultured Amniotic Fluid Cells

Kvittingen, E. A., Steinmann, B. U., GITZELMANN, R., Leonard, J. V., Andria, G., Børresen‐Dale, A., Mossman, J., Micara, G., & LINDBLAD, B. (1985) · Pediatric Research · doi:10.1203/00006450-198519040-00002 · Cited by 28 · see citing works

Molecular mapping of albino deletions associated with early embryonic lethality in the mouse

Niswander, L., Kelsey^, G., Schedl, A., Ruppert, S., Sharan, S. K., Holdener-Kenny, B., Rinchik, E. M., Edström, J.-E., & Magnuson, T. (1991) · Genomics · doi:10.1016/0888-7543(91)90234-6 · Cited by 28 · see citing works

Screening for tyrosinaemia type I.

Hutchesson, A. C. J., Hall, S. K., Preece, M. A., & Green, A. (1996) · Archives of Disease in Childhood Fetal & Neonatal · doi:10.1136/fn.74.3.f191 · Cited by 24 · see citing works

Presentation of the Data of the Italian Registry for Oculocutaneous Tyrosinaemia

Fois, A., Borgogni, P., Cioni, M., Molinelli, M., Frezzotti, R., Bardelli, A. M., Lasorella, G., Barberi, L., Durand, P., Rocco, M. D., et al. (1986) · Springer eBooks · doi:10.1007/978-94-009-4131-1_42 · Cited by 23 · see citing works

Effects of succinylacetone on the uptake of sugars and amino acids by brush border vesicles

Spencer, P. D., Medow, M. S., Moses, L. C., & Roth, K. S. (1988) · Kidney International · doi:10.1038/ki.1988.231 · Cited by 23 · see citing works

Hereditary tyrosinemia type I: strong association with haplotype 6 in French Canadians permits simple carrier detection and prenatal diagnosis.

Demers, S. I., Phaneuf, D., & Tanguay, R. M. (1994) · PubMed Central · Cited by 22 · see citing works

Liver transplantation for hereditary tyrosinemia in the presence of hepatocellular carcinoma.

Esquivel, C. O., Mieles, L., Marino, I. R., Todo, S., Makowka, L., Ambrosino, G., Nakazato, P. Z., & Starzl, T. E. (1989) · PubMed · Cited by 20 · see citing works

Inherited Hepatic Enzyme Defects as Candidates for Liver-Directed Gene Therapy

Horwich, A. L. (1991) · Current topics in microbiology and immunology · doi:10.1007/978-3-642-76015-0_9 · Cited by 19 · see citing works

A lethal deletion on mouse chromosome 7 affects regulation of liver-cell-specific functions: posttranscriptional control of serum protein and transcriptional control of aldolase B synthesis.

Sala-Trepat, J. M., Poiret, M., Sellem, C. H., Bessada, R., Erdös, T., & Gluecksohn‐Waelsch, S. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.8.2442 · Cited by 19 · see citing works

The human fumarylacetoacetase gene: characterisation of restriction fragment length polymorphisms and identification of haplotypes in tyrosinemia type 1 and pseudodeficiency

Rootwelt, H., Kvittingen, E. A., Høie, K., Agsteribbe, E., Hartog, M., van Faassen, H., & Berger, R. (1992) · Human Genetics · doi:10.1007/bf00217128 · Cited by 17 · see citing works

First‐trimester prenatal diagnosis of tyrosinemia type I by amniotic fluid succinylacetone determination

Jakobs, C., Stellaard, F., Kvittingen, E. A., Henderson, M. J., & Lilford, R. J. (1990) · Prenatal Diagnosis · doi:10.1002/pd.1970100210 · Cited by 16 · see citing works

Succinylacetone inhibits delta-aminolevulinate dehydratase and potentiates the drug and steroid induction of delta-aminolevulinate synthase in liver.

Sassa, S., & Kappas, A. (1982) · PubMed · Cited by 15 · see citing works

A CASE OF TYROSINAEMIA TYPE I WITH NORMAL LEVEL OF SUCCINYLACETONE IN THE AMNIOTIC FLUID

Grenier, A., Cederbaum, S. D., Laberge, C. M., GAGNÉ, R., Jakobs, C., & Tanguay, R. M. (1996) · Prenatal Diagnosis · doi:10.1002/(sici)1097-0223(199603)16:3 · Cited by 14 · see citing works

Effects of succinylacetone on amino acid uptake in the rat kidney

Spencer, P. D., & Roth, K. S. (1987) · Biochemical Medicine and Metabolic Biology · doi:10.1016/0885-4505(87)90015-6 · Cited by 13 · see citing works

Dietary treatment eliminates succinylacetone from the urine of a patient with tyrosinaemia type 1

Bain, M. D., Purkiss, P., Jones, M. A., Bingham, P. J., Stacey, T. E., & CHALMERS, R. A. (1990) · European Journal of Pediatrics · doi:10.1007/bf02034752 · Cited by 12 · see citing works

Liver transplantation in type I tyrosinemia.

Pascual, F. J. M., Vázquez, J., Gámez, M., López Santamaría, M., de la Vega, A., Mc, D., Jara, P., & Tovar, J. A. (1995) · PubMed · Cited by 8 · see citing works

Mspl RFLP in the human fumarylacetoacetate hydrolase (FAH) gene

Demers, S. I., & Tanguay, R. M. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.24.6971 · Cited by 7 · see citing works

Putative genetic deficiency of 4‐hydroxyphenylpyruvic acid dioxygenase in mice: A murine model for hereditary tyrosinaemia type III

Endo, F., Katoh, H., & Matsuda, I. (1990) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01799587 · Cited by 5 · see citing works

Sural nerve lesions in a case of hypertyrosinemia

Origuchi, Y., Endo, F., Kitano, A., Nagata, N., & Matsuda, I. (1982) · Brain and Development · doi:10.1016/s0387-7604(82)80074-0 · Cited by 5 · see citing works

[A system of early screening for inborn errors of metabolism: methods and results for hereditary tyrosinemia].

Bélanger, M., Saint-Hilaire, B., & Bélanger, L. (1973) · PubMed · Cited by 1 · see citing works

Acute liver failure

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 · see citing works

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 · see citing works

The Homogentisate Pathway: a Central Catabolic Pathway Involved in the Degradation of l -Phenylalanine, l -Tyrosine, and 3-Hydroxyphenylacetate in Pseudomonas putida

Arias‐Barrau, E., Olivera, E. R., Luengo, J. M., Fernández, C., Galán, B., García, J. L., Dı́az, E., & Miñambres, B. (2004) · Journal of Bacteriology · doi:10.1128/jb.186.15.5062-5077.2004 · Cited by 262 · see citing works

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations

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 · see citing works

A 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 · see citing works

Genetic medicines: treatment strategies for hereditary disorders

O’Connor, T. P., & Crystal, R. G. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1829 · Cited by 180 · see citing works

Nitisinone in the Treatment of Hereditary Tyrosinaemia Type 1

McKiernan, P. J. (2006) · Drugs · doi:10.2165/00003495-200666060-00002 · Cited by 151 · see citing works

Adeno‐associated virus gene repair corrects a mouse model of hereditary tyrosinemia in vivo†‡

Paulk, N. K., Wursthorn, K., Wang, Z., Finegold, M. J., Kay, M. A., & Grompe, M. (2010) · Hepatology · doi:10.1002/hep.23481 · Cited by 135 · see citing works

All-in-one adeno-associated virus delivery and genome editing by Neisseria meningitidis Cas9 in vivo

Ibraheim, R., Song, C., Mir, A., Amrani, N., Xue, W., & Sontheimer, E. J. (2018) · Genome biology · doi:10.1186/s13059-018-1515-0 · Cited by 110 · see citing works

Ex vivo cell-based CRISPR/Cas9 genome editing for therapeutic applications

Li, Y., Glass, Z., Huang, M., Chen, Z., & Xu, Q. (2020) · Biomaterials · doi:10.1016/j.biomaterials.2019.119711 · Cited by 113 · see citing works

Maleylacetoacetate Isomerase (MAAI/GSTZ)-Deficient Mice Reveal a Glutathione-Dependent Nonenzymatic Bypass in Tyrosine Catabolism

Fernández-Cañón, J. M., Baetscher, M., Finegold, M. J., Burlingame, T. G., Gibson, K. M., & Grompe, M. (2002) · Molecular and Cellular Biology · doi:10.1128/mcb.22.13.4943-4951.2002 · Cited by 97 · see citing works

The Degree of Liver Injury Determines the Role of P21 in Liver Regeneration And Hepatocarcinogenesis in Mice

Buitrago‐Molina, L. E., Marhenke, S., Longerich, T., Sharma, A. D., Boukouris, A. E., Geffers, R., Guigas, B., Manns, M. P., & Vogel, A. (2013) · Hepatology · doi:10.1002/hep.26412 · Cited by 92 · see citing works

Acute Liver Failure in Children

Bucuvalas, J. C., Yazigi, N. A., & Squires, R. H. (2006) · Clinics in Liver Disease · doi:10.1016/j.cld.2005.10.006 · Cited by 87 · see citing works

Cas9-nickase–mediated genome editing corrects hereditary tyrosinemia in rats

Shao, Y., Wang, L., Guo, N., Wang, S., Yang, L., Li, Y., Wang, M., Yin, S., Han, H., Zeng, L., et al. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra117.000347 · Cited by 75 · see citing works

Intensive Care Management of Pediatric Acute Liver Failure

Lutfi, R., Abulebda, K., Nitu, M. E., Molleston, J. P., Bozic, M. A., & Subbarao, G. C. (2016) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0000000000001441 · Cited by 74 · see citing works

Mice Deficient in Glutathione Transferase Zeta/Maleylacetoacetate Isomerase Exhibit a Range of Pathological Changes and Elevated Expression of Alpha, Mu, and Pi Class Glutathione Transferases

Lim, C. E. L., MATTHAEI, K. I., Blackburn, A. C., Davis, R. P., Dahlstrom, J. E., Koina, M. E., Anders, M. W., & Philip G. Board (2004) · American Journal Of Pathology · doi:10.1016/s0002-9440(10)63332-9 · Cited by 70 · see citing works

Chronic liver disease in murine hereditary tyrosinemia type 1 induces resistance to cell death

Vogel, A., van den Berg, I. E. T., Al-Dhalimy, M., Groopman, J. D., Ou, C., Ryabinina, O. P., Iordanov, M. S., Finegold, M. J., & Grompe, M. (2004) · Hepatology · doi:10.1002/hep.20077 · Cited by 66 · see citing works

Kidney preservation by bone marrow cell transplantation in hereditary nephropathy

Yeagy, B. A., Harrison, F., Gübler, M.-C., Koziol, J. A., Salomon, D. R., & Cherqui, S. (2011) · Kidney International · doi:10.1038/ki.2010.537 · Cited by 65 · see citing works

Oxidative damage to ferritin by 5-aminolevulinic acid

Rocha, M. E. M., Dutra, F., Bandy, B., Baldini, R. L., Gomes, S. L., Faljoni‐Alário, A., Liria, C. W., Teresa, M., Miranda, M., & Bechara, E. J. H. (2002) · Archives of Biochemistry and Biophysics · doi:10.1016/s0003-9861(02)00633-1 · Cited by 64 · see citing works

Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism

Erez, A., Shchelochkov, O. A., Plon, S. E., Scaglia, F., & Lee, B. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.005 · Cited by 65 · see citing works

Fumarylacetoacetate hydrolase deficient pigs are a novel large animal model of metabolic liver disease

Hickey, R., Mao, S. A., Glorioso, J. M., Lillegard, J. B., Fisher, J. E., Amiot, B. P., Rinaldo, P., Harding, C. O., Marler, R. J., Finegold, M. J., et al. (2014) · Stem Cell Research · doi:10.1016/j.scr.2014.05.003 · Cited by 63 · see citing works

Human Glutathione Transferase Zeta

Philip G. Board, & Anders, M. W. (2005) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(05)01004-9 · Cited by 62 · see citing works

Newborn Screening for Hepatorenal Tyrosinemia: Tandem Mass Spectrometric Quantification of Succinylacetone

Sander, J., Janzen, N., Peter, M., Sander, S., Steuerwald, U., Holtkamp, U., Schwahn, B., Mayatepek, E., Trefz, F. K., & Das, A. M. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2005.059790 · Cited by 62 · see citing works

Acute liver failure in neonates, infants and children

Devictor, D. J., Tissières, P., Durand, P., Chevret, L., & Debray, D. (2011) · Expert Review of Gastroenterology & Hepatology · doi:10.1586/egh.11.57 · Cited by 56 · see citing works

Disorders of Tyrosine Metabolism

Chakrapani, A., & Holme, E. (2006) · Inborn Metabolic Diseases · doi:10.1007/978-3-540-28785-8_18 · Cited by 52 · see citing works

A genetic screen reveals Foxa3 and TNFR1 as key regulators of liver repopulationPreprint

Wangensteen, K. J., Zhang, S., Greenbaum, L. E., & Kaestner, K. H. (2015) · Genes & Development · doi:10.1101/gad.258855.115 · Cited by 45 · see citing works

Neuropsychological outcome of NTBC-treated patients with tyrosinaemia type 1: Clinical Letter

De Laet, C., Terrones Munoz, V., Jaeken, J., François, B., Carton, D., Sokal, E. M., Dan, B., & Goyens, P. J. (2011) · Developmental Medicine & Child Neurology · doi:10.1111/j.1469-8749.2011.04048.x · Cited by 49 · see citing works

Rapamycin delays tumor development in murine livers by inhibiting proliferation of hepatocytes with DNA damage†

Buitrago‐Molina, L. E., Pothiraju, D., Lamlé, J., Marhenke, S., Kossatz-Boehlert, U., Breuhahn, K., Manns, M. P., Malek, N. P., & Vogel, A. (2009) · Hepatology · doi:10.1002/hep.23014 · Cited by 44 · see citing works

Cas9-mediated allelic exchange repairs compound heterozygous recessive mutations in mice

Wang, D., Li, J., Song, C., Tran, K., Mou, H., Wu, P., Tai, P. W. L., Mendonca, C. A., Ren, L., Wang, B. Y., et al. (2018) · Nature Biotechnology · doi:10.1038/nbt.4219 · Cited by 43 · see citing works

Reprogramming homing endonuclease specificity through computational design and directed evolution

Thyme, S. B., Boissel, S., Quadri, S. A., Nolan, T., Baker, D. A., Park, R. U., Kusak, L., Ashworth, J. R., & Baker, D. A. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt1212 · Cited by 39 · see citing works

Curative Ex Vivo Hepatocyte-Directed Gene Editing in a Mouse Model of Hereditary Tyrosinemia Type 1

VanLith, C. J., Guthman, R. M., Nicolas, C. T., Allen, K. L., Du, Z., Joo, D. J., Nyberg, S. L., Lillegard, J. B., & Hickey, R. (2018) · Human Gene Therapy · doi:10.1089/hum.2017.252 · Cited by 39 · see citing works

Activation of nuclear factor E2‐related factor 2 in hereditary tyrosinemia type 1 and its role in survival and tumor development†

Marhenke, S., Lamlé, J., Buitrago‐Molina, L. E., Cañón, J. M. F., Geffers, R., Finegold, M. J., Sporn, M. B., Yamamoto, M. P., Manns, M. P., Grompe, M., et al. (2008) · Hepatology · doi:10.1002/hep.22391 · Cited by 37 · see citing works

Amelioration of an Inherited Metabolic Liver Disease through Creation of a De Novo Start Codon by Cytidine Base Editing

Yang, L., Wang, L., Huo, Y., Chen, X., Yin, S., Hu, Y., Zhang, X., Zheng, R., Geng, H., Han, H., et al. (2020) · Molecular Therapy · doi:10.1016/j.ymthe.2020.05.001 · Cited by 37 · see citing works

Kidney repair and stem cells: a complex and controversial process

Yeagy, B. A., & Cherqui, S. (2011) · Pediatric Nephrology · doi:10.1007/s00467-011-1789-x · Cited by 35 · see citing works

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma

Blackburn, P. R., Hickey, R., Nace, R. A., Giama, N. H., Kraft, D. L., Bordner, A. J., Chaiteerakij, R., McCormick, J. B., Radulovic, M., Graham, R. P., et al. (2016) · Human Mutation · doi:10.1002/humu.23047 · Cited by 35 · see citing works

Pregnancy During Nitisinone Treatment for Tyrosinaemia Type I: First Human Experience

Vanclooster, A., Devlieger, R., Meersseman, W., Spraul, A., Kerckhove, K. V., Vermeersch, P., Meulemans, A., Allegaert, K., & Cassiman, D. M. (2011) · JIMD Reports · doi:10.1007/8904_2011_88 · Cited by 35 · see citing works

New Management Options for End-Stage Chronic Liver Disease and Acute Liver Failure

Debray, D., Yousef, N., & Durand, P. (2006) · Pediatric Drugs · doi:10.2165/00148581-200608010-00001 · Cited by 35 · see citing works

Pharmacophore-Oriented Discovery of Novel 1,2,3-Benzotriazine-4-one Derivatives as Potent 4-Hydroxyphenylpyruvate Dioxygenase Inhibitors

Yan, Y.-C., Wu, W., Huang, G.-Y., Yang, W., Chen, Q., Qu, R., Lin, H., & Yang, G. (2022) · Journal of Agricultural and Food Chemistry · doi:10.1021/acs.jafc.2c01507 · Cited by 34 · see citing works

The tyrosine degradation gene hppD is transcriptionally activated by HpdA and repressed by HpdR in Streptomyces coelicolor, while hpdA is negatively autoregulated and repressed by HpdR

Yang, H., Wang, L., Xie, Z., Tian, Y., Liu, G., & Tan, H. (2007) · Molecular Microbiology · doi:10.1111/j.1365-2958.2007.05848.x · Cited by 34 · see citing works

“Silent” Tyrosinemia Presenting as Hepatocellular Carcinoma in a 10‐year‐old Girl

Castilloux, J., Laberge, A., Martin, S. R., Lallier, M., & Marchand, V. (2007) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/mpg.0b013e31802f640c · Cited by 32 · see citing works

Current knowledge for pyridoxine-dependent epilepsy: a 2016 update

Pena, I. A., MacKenzie, A., & van Karnebeek, C. (2016) · Expert Review of Endocrinology & Metabolism · doi:10.1080/17446651.2017.1273107 · Cited by 31 · see citing works

Repeated transplantation of hepatocytes prevents fulminant hepatitis in a rat model of Wilson's disease

Sauer, V., Siaj, R., Stöppeler, S., Bahde, R., Spiegel, H.-U., Köhler, G., Zibert, A., & Schmidt, H. (2011) · Liver Transplantation · doi:10.1002/lt.22466 · Cited by 31 · see citing works

Development of Humanized Mice for the Study of Hepatitis C Virus Infection

Turrini, P., Sasso, R. N., Germoni, S., Marcucci, I., Celluci, A., Marco, A. D., Marra, E., Paonessa, G., Eutropi, A., Laufer, R., et al. (2006) · Transplantation Proceedings · doi:10.1016/j.transproceed.2006.02.149 · Cited by 31 · see citing works

Disorders of phenylalanine and tyrosine metabolism

Alsharhan, H., & Ficicioglu, C. H. (2020) · Translational Science of Rare Diseases · doi:10.3233/trd-200049 · Cited by 30 · see citing works

Successful management of acute liver failure in Italian children: A 16-year experience at a referral centre for paediatric liver transplantation

Giorgio, A. D., Sonzogni, A., Piccichè, A., Gerussi, A., Bonanomi, E., Colledan, M., & D’Antiga, L. (2017) · Digestive and Liver Disease · doi:10.1016/j.dld.2017.05.026 · Cited by 30 · see citing works

Homogentisic acid is not only eliminated by glomerular filtration and tubular secretion but also produced in the kidney in alkaptonuria

Ranganath, L. R., Milan, A. M., Hughes, A. T., Khedr, M., Davison, A. S., Shweihdi, E., Norman, B. P., Hughes, J. H., Bygott, H., Luangrath, E., et al. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12181 · Cited by 29 · see citing works

Differential roles for diploid and polyploid hepatocytes in acute and chronic liver injury

Wilkinson, P. D., & Duncan, A. (2020) · Seminars in liver disease (Print) · doi:10.1055/s-0040-1719175 · Cited by 25 · see citing works

In vivo lentiviral vector gene therapy to cure hereditary tyrosinemia type 1 and prevent development of precancerous and cancerous lesions

Nicolas, C. T., VanLith, C. J., Hickey, R., Du, Z., Hillin, L. G., Guthman, R. M., Cao, W. J., Haugo, B. J., Lillegard, A., Roy, D., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-32576-7 · Cited by 28 · see citing works

Unified gas chromatographic?mass spectrometric method for quantitating tyrosine metabolites in urine and plasma

Shroads, A. L. (2004) · Journal of Chromatography B · doi:10.1016/j.jchromb.2004.05.005 · Cited by 27 · see citing works

In vivo models of hepatitis B and C virus infection

Winer, B. Y., Ding, Q., Gaska, J. M., & Ploß, A. (2016) · FEBS Letters · doi:10.1002/1873-3468.12157 · Cited by 26 · see citing works

Maternal Sodium p -Perfluorous Nonenoxybenzene Sulfonate Exposure Disturbed Lipid Metabolism and Induced an Imbalance in Tyrosine Metabolism in the F1 Generation of Mice

Wang, C., Fang, C., Wang, C., Jin, C., Qian, M., & Jin, Y. (2022) · Chemical Research in Toxicology · doi:10.1021/acs.chemrestox.1c00424 · Cited by 26 · see citing works

The use of glutathione transferase-knockout mice as pharmacological and toxicological models

Philip G. Board (2007) · Expert Opinion on Drug Metabolism & Toxicology · doi:10.1517/17425255.3.3.421 · Cited by 26 · see citing works

Lectin‐reactive α‐Fetoprotein in Patients with Tyrosinemia Type I and Hepatocellular Carcinoma

Baumann, U., Duhme, V., Auth, M. K. H., McKiernan, P. J., & Holme, E. (2006) · Journal of Pediatric Gastroenterology and Nutrition · doi:10.1097/01.mpg.0000228112.29359.f8 · Cited by 25 · see citing works

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment

Schlump, J. ‐., Perot, C., Ketteler, K., Schiff, M., Mayatepek, E., Wendel, U., & Spiekerkoetter, U. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-0807-z · Cited by 24 · see citing works

Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.

Te, B., Anglin, C. M., Bridges, P. H., & Cottle, R. N. (2017) · PubMed Central · Cited by 23 · see citing works

Hepatocarcinogenesis in multidrug‐resistant P‐glycoprotein 3 deficiency

Vij, M., Shanmugam, N. P., Reddy, M. S., Govil, S., & Rela, M. (2017) · Pediatric Transplantation · doi:10.1111/petr.12889 · Cited by 23 · see citing works

Hepatocyte spheroids as an alternative to single cells for transplantation after ex vivo gene therapy in mice and pig models

Nicolas, C. T., Hickey, R., Allen, K. L., Du, Z., Guthman, R. M., Kaiser, R. A., Amiot, B. P., Bansal, A., Pandey, M. K., Suksanpaisan, L., et al. (2018) · Surgery · doi:10.1016/j.surg.2018.04.012 · Cited by 23 · see citing works

Liver Cancer Gene Discovery Using Gene Targeting, Sleeping Beauty, and CRISPR/Cas9

Kieckhaefer, J. E., Maina, F., Wells, R. G., & Wangensteen, K. J. (2019) · Seminars in Liver Disease · doi:10.1055/s-0039-1678725 · Cited by 22 · see citing works

Cost–Consequence Analysis of Nitisinone for Treatment of Tyrosinemia Type I

Simoncelli, M., Samson, J., Bussières, J., Lacroix, J., Dorais, M., Battista, R. N., & Perreault, S. (2015) · The Canadian Journal of Hospital Pharmacy · doi:10.4212/cjhp.v68i3.1454 · Cited by 22 · see citing works

Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin

Imtiaz, F., Rashed, M. S., Al-Mubarak, B. R., Allam, R., El-Karaksy, H. M., Al‐Hassnan, Z. N., Al‐Owain, M. A., Alzaidan, H., Rahbeeni, Z. A., Qari, A., et al. (2011) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2011.06.019 · Cited by 22 · see citing works

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1

Hickey, R., Nicolas, C. T., Allen, K. L., Mao, S. A., Elgilani, F., Glorioso, J. M., Amiot, B. P., VanLith, C. J., Guthman, R. M., Du, Z., et al. (2018) · Cell Transplantation · doi:10.1177/0963689718814188 · Cited by 22 · see citing works

Gene therapy for inborn errors of liver metabolism

Brunetti‐Pierri, N., & Lee, B. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.07.015 · Cited by 21 · see citing works

Gene Therapy in Liver Diseases: State-of-the-Art and Future Perspectives

Domvri, K., Zarogoulidis, P., Porpodis, Κ., Koffa, M. D., Lambropoulou, M., Kakolyris, S., Kolios, G. C., Zarogoulidis, P., & Chatzaki, Ε. (2012) · Current Gene Therapy · doi:10.2174/156652312803519788 · Cited by 20 · see citing works

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1

Li, L., Zhang, Q., Yang, H., Zou, Q., Lai, C., Jiang, F., Zhao, P., Luo, Z., Yang, J., Chen, Q., et al. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.764787 · Cited by 19 · see citing works

Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day

Kienstra, N. S., van Reemst, H. E., van Ginkel, W. G., Daly, A., van Dam, E., MacDonald, A., Burgerhof, J. G. M., de Blaauw, P., McKiernan, P. J., Heiner-Fokkema, M. R., et al. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0112-9 · Cited by 19 · see citing works

Combined 3D-quantitative structure–activity Relationships and Topomer technology-based Molecular Design of Human 4-hydroxyphenylpyruvate Dioxygenase Inhibitors

Liu, Y., Gao, S., Ye, T., Li, J., Ye, F., & Fu, Y. (2020) · Future Medicinal Chemistry · doi:10.4155/fmc-2019-0349 · Cited by 19 · see citing works

Heterogeneity of follow‐up procedures in French and Belgian patients with treated hereditary tyrosinemia type 1: results of a questionnaire and proposed guidelines

Schiff, M., Broue, P., Chabrol, B., De Laet, C., Habes, D., Mention, K., Sarles, J., Spraul, A., Valayannopoulos, V., Ogier de Baulny, H., et al. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-011-9429-y · Cited by 28 · see citing works

Ex Vivo Cell Therapy by Ectopic Hepatocyte Transplantation Treats the Porcine Tyrosinemia Model of Acute Liver Failure

Nicolas, C. T., Kaiser, R. A., Hickey, R., Allen, K. L., Du, Z., VanLith, C. J., Guthman, R. M., Amiot, B. P., Suksanpaisan, L., Han, B., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.07.009 · Cited by 18 · see citing works

Genetically blocking HPD via CRISPR-Cas9 protects against lethal liver injury in a pig model of tyrosinemia type I

Gu, P., Yang, Q. Z., Chen, B., Bie, Y., Liu, W., Tian, Y.-G., Luo, H., Xu, T., Liang, C., Ye, X., et al. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.04.002 · Cited by 18 · see citing works

Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1

Angileri, F., Roy, V., Morrow, G., Scoazec, J., Gadot, N., Orejuela, D., & Tanguay, R. M. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2015.09.002 · Cited by 17 · see citing works

In Vivo Selection of Transplanted Hepatocytes by Pharmacological Inhibition of Fumarylacetoacetate Hydrolase in Wild-type Mice

Paulk, N. K., Wursthorn, K., Haft, A., Pelz, C., Clarke, G. N., Newell, A. H., Olson, S. B., Harding, C. O., Finegold, M. J., Bateman, R. L., et al. (2012) · Molecular Therapy · doi:10.1038/mt.2012.154 · Cited by 16 · see citing works

Kidneys of Mice With Hereditary Tyrosinemia Type I Are Extremely Sensitive to Cytotoxicity

Jacobs, S. M. M., van Beurden, D., Klomp, L. W. J., Berger, R., & van den Berg, I. E. T. (2006) · Pediatric Research · doi:10.1203/01.pdr.0000198810.57642.b4 · Cited by 17 · see citing works

Female Protection Against Diabetic Kidney Disease Is Regulated by Kidney-Specific AMPK Activity

Lee, H. J., Min, L., Gao, J., Matta, S., Drel, V. R., Saliba, A., Tamayo, I. M., Montellano, R., Hejazi, L., Maity, S., et al. (2024) · Diabetes · doi:10.2337/db23-0807 · Cited by 14 · see citing works

The future of gene-targeted therapy for hereditary tyrosinemia type 1 as a lead indication among the inborn errors of metabolism

Thompson, W. S., Mondal, G., VanLith, C. J., Kaiser, R. A., & Lillegard, J. B. (2020) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2020.1791082 · Cited by 14 · see citing works

Liver Diseases

Dhillon, A., & Steadman, R. H. (2012) · Elsevier eBooks · doi:10.1016/b978-1-4377-2787-6.00005-x · Cited by 14 · see citing works

Development of RAG2-/-IL2Rγ-/Y immune deficient FAH-knockout miniature pig

Zhao, H., Ye, W., Guo, J., Wang, J., Jiao, D., Xu, K., Yang, C. Q., Chen, S., Jamal, M. A., Bai, Z., et al. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.950194 · Cited by 13 · see citing works

Advances in individualized and regenerative medicine

Blum, H. E. (2014) · Advances in Medical Sciences · doi:10.1016/j.advms.2013.12.001 · Cited by 13 · see citing works

Recognition and diagnostic approach to acute metabolic disorders in the neonatal period.

Mohamed, S. (2011) · Europe PMC (PubMed Central) · Cited by 13 · see citing works

Translational potential of base-editing tools for gene therapy of monogenic diseases

Reshetnikov, V. V., Chirinskaite, A. V., Sopova, J. V., Ivanov, R. A., & Леонова, Е. И. (2022) · Frontiers in Bioengineering and Biotechnology · doi:10.3389/fbioe.2022.942440 · Cited by 13 · see citing works

Tyrosinemia type I: A clinico-laboratory case report

Karnik, D., Thomas, N., Eapen, C. E., Jana, A. K., & Oommen, A. M. (2004) · The Indian Journal of Pediatrics · doi:10.1007/bf02830839 · Cited by 12 · see citing works

Solution Structure of Succinylacetone, An Unsymmetrical β-Diketone, As Studied by 13C NMR and GIAO−DFT Calculations

Bal, D., Kraska‐Dziadecka, A., & Gryff‐Keller, A. (2009) · The Journal of Organic Chemistry · doi:10.1021/jo901673j · Cited by 12 · see citing works

Inborn Errors of Metabolism of the Nervous System

Pastores, G. M. (2008) · Elsevier eBooks · doi:10.1016/b978-0-7506-7525-3.50104-7 · Cited by 12 · see citing works

Sleeping Beauty Transposon System is a Reliable Gene Delivery Tool for Hereditary Tyrosinaemia Type 1 Disease Gene Therapy: Size of the Foreign Gene Decides the Timing of Stable Integration into the Host Chromosomes

Pan, X.-J., Ma, Z.-Z., Zhang, Q.-J., Fan, L., & Li, Q.-H. (2012) · Journal of International Medical Research · doi:10.1177/030006051204000523 · Cited by 11 · see citing works

Simultaneous quantification of succinylacetone and nitisinone for therapeutic drug monitoring in the treatment of Tyrosinemia type 1

Sundberg, J., Wibrand, F., Lund, A. M., & Christensen, M. (2017) · Journal of Chromatography B · doi:10.1016/j.jchromb.2017.11.031 · Cited by 11 · see citing works

LC-MS/MS study of the degradation processes of nitisinone and its by-products

Barchañska, H., Rola, R., Szczepankiewicz, W., & Mrachacz, M. (2019) · Journal of Pharmaceutical and Biomedical Analysis · doi:10.1016/j.jpba.2019.03.046 · Cited by 11 · see citing works

Development and challenges of using CRISPR-Cas9 system in mammalians

Khambhati, K., Gohil, N., Bhattacharjee, G., & Singh, V. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818140-9.00007-6 · Cited by 10 · see citing works

Orphan Drug Designation and Pharmacogenomics

Maher, P. D., & Haffner, M. E. (2006) · BioDrugs · doi:10.2165/00063030-200620020-00001 · Cited by 10 · see citing works

Inhibition of 4-hydroxyphenylpyruvate dioxygenase by 2-[2-nitro-4-(trifluoromethyl)benzoyl]-1,3-cyclohexanedione.

Molchanov, S., & Gryff‐Keller, A. (2009) · Acta Biochimica Polonica · doi:10.18388/abp.2009_2479 · Cited by 10 · see citing works

NTBC and Correction of Renal Dysfunction

Maiorana, A., & Dionisi‐Vici, C. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-55780-9_8 · Cited by 9 · see citing works

Impaired DNA repair and genomic stability in hereditary tyrosinemia type 1

van Dyk, E., & Pretorius, P. J. (2011) · Gene · doi:10.1016/j.gene.2011.12.021 · Cited by 8 · see citing works

Living‐donor liver transplantation for children with tyrosinemia type I

Liu, Y., Luo, Y., Xia, L., Qiu, B., Zhou, T., Feng, M., Xue, F., Chen, X. S., Han, L. S., Zhang, J. J., et al. (2020) · Journal of Digestive Diseases · doi:10.1111/1751-2980.12846 · Cited by 8 · see citing works

ER Stress Signaling in Hepatic Injury

Ji, C., & Kaplowitz, N. (2009) · Springer eBooks · doi:10.1007/978-3-642-00150-5_19 · Cited by 8 · see citing works

Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1

Schlump, J.-U., Mayatepek, E., & Spiekerkoetter, U. (2010) · European Journal of Pediatrics · doi:10.1007/s00431-009-1074-1 · Cited by 13 · see citing works

In vivo selection of hepatocytes

Vonada, A., & Grompe, M. (2024) · Hepatology · doi:10.1097/hep.0000000000001143 · Cited by 7 · see citing works

Molecular therapy and prevention of liver diseases

Blum, H. E. (2008) · Virologica Sinica · doi:10.1007/s12250-008-2938-7 · Cited by 7 · see citing works

Metabolic Disorders in Childhood

Jevon, G. P., & Dimmick, J. E. (2004) · Springer eBooks · doi:10.1007/978-1-4419-9066-2_12 · Cited by 7 · see citing works

[Application of tandem mass spectrometry to neonatal screening of inherited metabolic diseases: focus on present developments].

Cheillan, D., Cognat, S., Vianey‐Saban, C., Maire, I., & Dorche, C. (2004) · PubMed · Cited by 7 · see citing works

Treatment strategies for acute metabolic disorders in neonates.

Mohamed, S. (2011) · Europe PMC (PubMed Central) · Cited by 6 · see citing works

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review

Daou, K. N., Barhoumi, A., Bassyouni, A., & Karam, P. E. (2021) · Frontiers in Pediatrics · doi:10.3389/fped.2021.698577 · Cited by 6 · see citing works

Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production

Larson, E. L., Joo, D. J., Nelson, E., Amiot, B. P., Aravalli, R. N., & Nyberg, S. L. (2021) · Stem Cell Reports · doi:10.1016/j.stemcr.2021.09.018 · Cited by 6 · see citing works

Biochemical and Clinical Aspects of Hereditary Tyrosinemia Type 1

Morrow, G., & Tanguay, R. M. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-55780-9_2 · Cited by 67 · see citing works

Hereditary Tyrosinemia

Halvorsen, S. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-55780-9 · Cited by 11 · see citing works

Hereditary Tyrosinemia Type 1 in Turkey

Zeybek, A. Ç. A., Kıykım, E., & Cansever, M. Ş. (2017) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-55780-9_15 · Cited by 12 · see citing works

Diagnosis and management of tyrosinemia type I

Holme, E., & Lindstedt, S. (1995) · The Journal of Pediatrics · doi:10.1097/00008480-199512000-00017 · Cited by 65 · see citing works

Hereditary Tyrosinemia Type 1 Mice under Continuous Nitisinone Treatment Display Remnants of an Uncorrected Liver Disease Phenotype

Neuckermans, J., Lequeue, S., Claes, P., Heymans, A., Hughes, J. H., Colemonts‐Vroninks, H., Marcélis, L., Casimir, G. J., Goyens, P. J., Martens, G. A., et al. (2023) · Genes · doi:10.3390/genes14030693 · Cited by 9 · see citing works