-
1
-
-
0019418853
-
Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia
-
Berger R, Smit GP, Stoker-de Varies SA, Duran M, Ketting D, Wadman SK. Deficiency of fumarylacetoacetase in a patient with hereditary tyrosinemia. Clin Chim Acta. 1981;114:37-44.
-
(1981)
Clin Chim Acta
, vol.114
, pp. 37-44
-
-
Berger, R.1
Smit, G.P.2
Stoker-de Varies, S.A.3
Duran, M.4
Ketting, D.5
Wadman, S.K.6
-
2
-
-
0019466070
-
Assay of fumarylacetoacetate fumarylhydrolase in human liver: Deficient activity in a case of hereditary tyrosinemia
-
Kvittingen EA, Jellum E, Stokke O. Assay of fumarylacetoacetate fumarylhydrolase in human liver: deficient activity in a case of hereditary tyrosinemia. Clin Chim Acta. 1981;115:311-9.
-
(1981)
Clin Chim Acta
, vol.115
, pp. 311-319
-
-
Kvittingen, E.A.1
Jellum, E.2
Stokke, O.3
-
3
-
-
34249777886
-
-
Mitchell GA, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic andmolecular bases of inherited disease. 7th ed. New York: McGraw-Hill. 1995. p. 1077-106.
-
Mitchell GA, Lambert M, Tanguay RM. Hypertyrosinemia. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic andmolecular bases of inherited disease. 7th ed. New York: McGraw-Hill. 1995. p. 1077-106.
-
-
-
-
4
-
-
0009597561
-
An atypical case of tyrosinosis. Part 1
-
Sakai K, Kitagawa T. An atypical case of tyrosinosis. Part 1. Jikei Med J. 1957;2:1-10.
-
(1957)
Jikei Med J
, vol.2
, pp. 1-10
-
-
Sakai, K.1
Kitagawa, T.2
-
5
-
-
0025099643
-
Neurologic crises in hereditary tyrosinemia
-
Mitchell G, Larochelle J, Lambert M, Michaud J, Grenier A, Ogier H, Gauthier M, Lacroix J, Vanasse M, et al. Neurologic crises in hereditary tyrosinemia. N Engl J Med. 1990;322:432-7.
-
(1990)
N Engl J Med
, vol.322
, pp. 432-437
-
-
Mitchell, G.1
Larochelle, J.2
Lambert, M.3
Michaud, J.4
Grenier, A.5
Ogier, H.6
Gauthier, M.7
Lacroix, J.8
Vanasse, M.9
-
7
-
-
0026675589
-
Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase
-
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992;340:813-7.
-
(1992)
Lancet
, vol.340
, pp. 813-817
-
-
Lindstedt, S.1
Holme, E.2
Lock, E.A.3
Hjalmarson, O.4
Strandvik, B.5
-
8
-
-
0026474437
-
Type 1 hereditary tyrosinemia: Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient
-
Phaneuf D, Lambert M, Laframboise R, Mitchell G, Lettre F, Tanguay RM. Type 1 hereditary tyrosinemia: evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient. J Clin Invest. 1992;90:1185-92.
-
(1992)
J Clin Invest
, vol.90
, pp. 1185-1192
-
-
Phaneuf, D.1
Lambert, M.2
Laframboise, R.3
Mitchell, G.4
Lettre, F.5
Tanguay, R.M.6
-
9
-
-
0028214360
-
Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I
-
Awata H, Endo F, Tanoue A, Kitano A, Nakano Y, Matsuda I. Structural organization and analysis of the human fumarylacetoacetate hydrolase gene in tyrosinemia type I. Biochim. Biophys. Acta. 1994;1226:168-72.
-
(1994)
Biochim. Biophys. Acta
, vol.1226
, pp. 168-172
-
-
Awata, H.1
Endo, F.2
Tanoue, A.3
Kitano, A.4
Nakano, Y.5
Matsuda, I.6
-
10
-
-
0018377476
-
Genetic control of morphogenetic and biochemical differentiation: Lethal albino deletions in the mouse
-
Gluecksohn-Waelsch S. Genetic control of morphogenetic and biochemical differentiation: lethal albino deletions in the mouse. Cell. 1979;16:225-37.
-
(1979)
Cell
, vol.16
, pp. 225-237
-
-
Gluecksohn-Waelsch, S.1
-
11
-
-
0026756172
-
Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice
-
Ruppert S, Kelsey G, Schedl A, Schmid E, Thies E, Schutz G. Deficiency of an enzyme of tyrosine metabolism underlies altered gene expression in newborn liver of lethal albino mice. Genes Dev. 1992;6: 1430-43.
-
(1992)
Genes Dev
, vol.6
, pp. 1430-1443
-
-
Ruppert, S.1
Kelsey, G.2
Schedl, A.3
Schmid, E.4
Thies, E.5
Schutz, G.6
-
12
-
-
0026558596
-
Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus
-
Klebig ML, Russell LB, Rinchik EM. Murine fumarylacetoacetate hydrolase (Fah) gene is disrupted by a neonatally lethal albino deletion that defines the hepatocyte-specific developmental regulation 1 (hsdr-1) locus. Proc Natl Acad Sci USA. 1992;89:1363-7.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 1363-1367
-
-
Klebig, M.L.1
Russell, L.B.2
Rinchik, E.M.3
-
13
-
-
0025367067
-
Two genetically defined trans-acting loci coordinately regulate over-lapping sets of liver-specific genes
-
Ruppert S, Bothart M, Bosch F, Schmid W, Fournier REK, Schutz G. Two genetically defined trans-acting loci coordinately regulate over-lapping sets of liver-specific genes. Cell. 1990;61:895-904.
-
(1990)
Cell
, vol.61
, pp. 895-904
-
-
Ruppert, S.1
Bothart, M.2
Bosch, F.3
Schmid, W.4
Fournier, R.E.K.5
Schutz, G.6
-
14
-
-
0027131576
-
Rescue of mice homozygous for lethal albino deletions: Implications for an animal model for the human liver disease tyrosinemia type I
-
Kelsey G, Ruppert S, Beermann F, Grund C, Tanguay RM, Schutz G. Rescue of mice homozygous for lethal albino deletions: implications for an animal model for the human liver disease tyrosinemia type I. Genes Dev. 1993;7:2285-97.
-
(1993)
Genes Dev
, vol.7
, pp. 2285-2297
-
-
Kelsey, G.1
Ruppert, S.2
Beermann, F.3
Grund, C.4
Tanguay, R.M.5
Schutz, G.6
-
15
-
-
0027137419
-
Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice
-
Grompe M, Al-Dhalimy M, Finegold M, Ou CN, Burlingame T, Kennaway NG, Soriano P. Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice. Genes Dev. 1993;7:2298-307.
-
(1993)
Genes Dev
, vol.7
, pp. 2298-2307
-
-
Grompe, M.1
Al-Dhalimy, M.2
Finegold, M.3
Ou, C.N.4
Burlingame, T.5
Kennaway, N.G.6
Soriano, P.7
-
16
-
-
0015831270
-
Ultrastructural basis of biochemical effects in a series of lethal alleles in the mouse
-
Trigg MJ, Gluecksohn-Waelsch S. Ultrastructural basis of biochemical effects in a series of lethal alleles in the mouse. J Cell Biol. 1973;58:549-63.
-
(1973)
J Cell Biol
, vol.58
, pp. 549-563
-
-
Trigg, M.J.1
Gluecksohn-Waelsch, S.2
-
17
-
-
0029082193
-
Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinemia type I
-
Grompe M, Lindstedt S, Al-Dhalimy M, Kennaway NG, Papaconstantinou J, Torres-Ramos CA, Ou CA, Finegold M. Pharmacological correction of neonatal lethal hepatic dysfunction in a murine model of hereditary tyrosinemia type I. Nat Genet. 1995;10:453-60.
-
(1995)
Nat Genet
, vol.10
, pp. 453-460
-
-
Grompe, M.1
Lindstedt, S.2
Al-Dhalimy, M.3
Kennaway, N.G.4
Papaconstantinou, J.5
Torres-Ramos, C.A.6
Ou, C.A.7
Finegold, M.8
-
18
-
-
9844238697
-
Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway
-
Endo F, Kubo S, Awata H, Kiwaki K, Katoh H, Kanegae Y, Saito I, Miyazaki J, Yamamoto T, et al. Complete rescue of lethal albino c14CoS mice by null mutation of 4-hydroxyphenylpyruvate dioxygenase and induction of apoptosis of hepatocytes in these mice by in vivo retrieval of the tyrosine catabolic pathway. J Biol Chem. 1997;272:24426-32.
-
(1997)
J Biol Chem
, vol.272
, pp. 24426-24432
-
-
Endo, F.1
Kubo, S.2
Awata, H.3
Kiwaki, K.4
Katoh, H.5
Kanegae, Y.6
Saito, I.7
Miyazaki, J.8
Yamamoto, T.9
-
19
-
-
0025796746
-
A murine model for type III tyrosinemia: Lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia
-
Endo F, Katoh H, Yamamoto S, Matsuda I. A murine model for type III tyrosinemia: lack of immunologically detectable 4-hydroxyphenylpyruvic acid dioxygenase enzyme protein in a novel mouse strain with hypertyrosinemia. Am J Hum Genet. 1991;48:704-9.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 704-709
-
-
Endo, F.1
Katoh, H.2
Yamamoto, S.3
Matsuda, I.4
-
20
-
-
0028939376
-
A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III
-
Endo F, Awata H, Katoh H, Matsuda I. A nonsense mutation in the 4-hydroxyphenylpyruvic acid dioxygenase gene (Hpd) causes skipping of the constitutive exon and hypertyrosinemia in mouse strain III. Genomics. 1995;25:164-9.
-
(1995)
Genomics
, vol.25
, pp. 164-169
-
-
Endo, F.1
Awata, H.2
Katoh, H.3
Matsuda, I.4
-
21
-
-
16944366244
-
In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic aciddioxygenase deficiencies in strain III mice
-
Kubo S, Kiwaki K, Awata H, Katoh H, Kanegae Y, Saito I, Yamamoto T, Miyazaki J, Matsuda I, et al. In vivo correction with recombinant adenovirus of 4-hydroxyphenylpyruvic aciddioxygenase deficiencies in strain III mice. Hum Gene Ther. 1997;8:65-71.
-
(1997)
Hum Gene Ther
, vol.8
, pp. 65-71
-
-
Kubo, S.1
Kiwaki, K.2
Awata, H.3
Katoh, H.4
Kanegae, Y.5
Saito, I.6
Yamamoto, T.7
Miyazaki, J.8
Matsuda, I.9
-
22
-
-
0032482959
-
Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors
-
Kubo S, Sun MS, Miyahara M, Umeyama K, Urakami K, Yamamoto T, Jakobs C, Matsuda I, Endo F. Hepatocyte injury in tyrosinemia type 1 is induced by fumarylacetoacetate and is inhibited by caspase inhibitors. Proc Natl Acad Sci USA. 1998;95:9552-7.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 9552-9557
-
-
Kubo, S.1
Sun, M.S.2
Miyahara, M.3
Umeyama, K.4
Urakami, K.5
Yamamoto, T.6
Jakobs, C.7
Matsuda, I.8
Endo, F.9
-
23
-
-
0033959638
-
A mouse model of renal tubular injury of tyrosinemia type 1: Development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice
-
Sun MS, Hattori S, Kubo S, Awata H, Matsuda I, Endo F. A mouse model of renal tubular injury of tyrosinemia type 1: development of de Toni Fanconi syndrome and apoptosis of renal tubular cells in Fah/Hpd double mutant mice. J Am Soc Nephrol. 2000;11:291-300.
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 291-300
-
-
Sun, M.S.1
Hattori, S.2
Kubo, S.3
Awata, H.4
Matsuda, I.5
Endo, F.6
-
25
-
-
0038165507
-
Gene expression profiles and transcription factors involved in parathyroid hormone signaling in osteoblasts revealed by microarray and bioinformatics
-
Qin L, Qiu P, Wang L, Li X, Swarthout JT, Soteropoulos P, Tolias P, Partridge NC. Gene expression profiles and transcription factors involved in parathyroid hormone signaling in osteoblasts revealed by microarray and bioinformatics. J Biol Chem. 2003;278:19723-31.
-
(2003)
J Biol Chem
, vol.278
, pp. 19723-19731
-
-
Qin, L.1
Qiu, P.2
Wang, L.3
Li, X.4
Swarthout, J.T.5
Soteropoulos, P.6
Tolias, P.7
Partridge, N.C.8
-
26
-
-
33748977806
-
Gene expression profiles of homogentisate-treated Fah-/-Hpd-/-mice using DNA microarrays
-
Tanaka Y, Nakamura K, Matsumoto S, Kimoto Y, Tanoue A, Tsujimoto G, Endo F. Gene expression profiles of homogentisate-treated Fah-/-Hpd-/-mice using DNA microarrays. Mol Genet Metab. 2006;89:203-9.
-
(2006)
Mol Genet Metab
, vol.89
, pp. 203-209
-
-
Tanaka, Y.1
Nakamura, K.2
Matsumoto, S.3
Kimoto, Y.4
Tanoue, A.5
Tsujimoto, G.6
Endo, F.7
-
27
-
-
0033694301
-
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 IL, et al. Purified hematopoietic stem cells can differentiate into hepatocytes in vivo. Nat Med. 2000;6:1229-34.
-
(2000)
Nat Med
, vol.6
, pp. 1229-1234
-
-
Lagasse, E.1
Connors, H.2
Al-Dhalimy, M.3
Reitsma, M.4
Dohse, M.5
Osborne, L.6
Wang, X.7
Finegold, M.8
Weissman, I.L.9
-
28
-
-
0037464574
-
Cell fusion is the principal source of bone-marrow-derived hepatocytes
-
Wang X, Willenbring H, Akkari Y, Torimaru Y, Foster M, Al-Dhalimy M, Lagasse E, Finegold M, Olson S, et al. Cell fusion is the principal source of bone-marrow-derived hepatocytes. Nature. 2003;422:897-901.
-
(2003)
Nature
, vol.422
, pp. 897-901
-
-
Wang, X.1
Willenbring, H.2
Akkari, Y.3
Torimaru, Y.4
Foster, M.5
Al-Dhalimy, M.6
Lagasse, E.7
Finegold, M.8
Olson, S.9
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