-
1
-
-
0014200330
-
Penetration of the mitochondrial membrane by glutamate and aspartate
-
Azzi, A., J. B. Chappell, and B. H. Robinson. 1967. Penetration of the mitochondrial membrane by glutamate and aspartate. Biochem. Biophys. Res. Commun 29:148-152.
-
(1967)
Biochem. Biophys. Res. Commun.
, vol.29
, pp. 148-152
-
-
Azzi, A.1
Chappell, J.B.2
Robinson, B.H.3
-
2
-
-
0037066593
-
Expression of three mitochondrial solute carriers, citrin, aralarl and ornithine transporter, in relation to urea cycle in mice
-
Begum, L., M. A. Jalil, K. Kobayashi, M. lijima, M. X. Li, T. Yasuda, M. Horiuchi, A. del Arco, J. Satrústegui, and T. Saheki. 2002. Expression of three mitochondrial solute carriers, citrin, aralarl and ornithine transporter, in relation to urea cycle in mice. Biochim. Biophys. Acta 1574:283-292.
-
(2002)
Biochim. Biophys. Acta
, vol.1574
, pp. 283-292
-
-
Begum, L.1
Jalil, M.A.2
Kobayashi, K.3
Lijima, M.4
Li, M.X.5
Yasuda, T.6
Horiuchi, M.7
Del Arco, A.8
Satrústegui, J.9
Saheki, T.10
-
3
-
-
0036431028
-
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids
-
Ben-Shalom, E., K. Kobayashi, A. Shaag, T. Yasuda, H. Z. Gao, T. Saheki, C. Bachmann, and O. Elpeleg. 2002. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol. Genet. Metab. 77:202-208.
-
(2002)
Mol. Genet. Metab.
, vol.77
, pp. 202-208
-
-
Ben-Shalom, E.1
Kobayashi, K.2
Shaag, A.3
Yasuda, T.4
Gao, H.Z.5
Saheki, T.6
Bachmann, C.7
Elpeleg, O.8
-
4
-
-
0001144466
-
Hydrogen transport and transport metabolites
-
P. Karson (ed.). Springer-Verlag KG, Heidelberg, Germany
-
Borst, P. 1963. Hydrogen transport and transport metabolites, p. 137-162., In P. Karson (ed.), Funktionelle und morphologische Organization der Zelle. Springer-Verlag KG, Heidelberg, Germany.
-
(1963)
Funktionelle und Morphologische Organization der Zelle
, pp. 137-162
-
-
Borst, P.1
-
5
-
-
0030891309
-
Northern blotting of RNA denatured in glyoxal without buffer recirculation
-
Burnett, W. V. 1997. Northern blotting of RNA denatured in glyoxal without buffer recirculation. BioTechniques 22: 668-671.
-
(1997)
BioTechniques
, vol.22
, pp. 668-671
-
-
Burnett, W.V.1
-
6
-
-
0034141637
-
Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues
-
del Arco, A., M. Agudo, and J. Satrústegui. 2000. Characterization of a second member of the subfamily of calcium-binding mitochondrial carriers expressed in human non-excitable tissues. Biochem. J. 345:725-732.
-
(2000)
Biochem. J.
, vol.345
, pp. 725-732
-
-
Del Arco, A.1
Agudo, M.2
Satrústegui, J.3
-
7
-
-
0032483516
-
Molecular cloning of aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain
-
del Arco, A., and J. Satrústegui. 1998. Molecular cloning of aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain. J. Biol. Chem. 273:23327-23334.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 23327-23334
-
-
Del Arco, A.1
Satrústegui, J.2
-
8
-
-
0038385026
-
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype-correlation in 38 classical citrullinemia patients
-
Gao, H. Z., K. Kobayashi, A. Tabata, H. Tsuge, M. Iijima, T. Yasuda, H. S. Kalkanoglu, A. Dursun, A. Tokatli, T. Coskun, F. K. Trefz, D. Skladal, H. Mandel, J. Seidel, S. Kodama, S. Shirane, T. Ichida, S. Makino, M. Yoshino, J. H. Kang, M. Mizuguchi, B. A. Barshop, S. Fuchinoue, S. Seneca, S. Zeesman, I. Knerr, M. Rodes, P. Wasant, I. Yoshida, L. De Meirleir, M. Abdul Jalil, L. Begum, M. Horiuchi, N. Katunuma, S. Nakagawa, and T. Saheki. 2003. Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype-correlation in 38 classical citrullinemia patients. Hum. Mutat. 22:24-34.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 24-34
-
-
Gao, H.Z.1
Kobayashi, K.2
Tabata, A.3
Tsuge, H.4
Iijima, M.5
Yasuda, T.6
Kalkanoglu, H.S.7
Dursun, A.8
Tokatli, A.9
Coskun, T.10
Trefz, F.K.11
Skladal, D.12
Mandel, H.13
Seidel, J.14
Kodama, S.15
Shirane, S.16
Ichida, T.17
Makino, S.18
Yoshino, M.19
Kang, J.H.20
Mizuguchi, M.21
Barshop, B.A.22
Fuchinoue, S.23
Seneca, S.24
Zeesman, S.25
Knerr, I.26
Rodes, M.27
Wasant, P.28
Yoshida, I.29
De Meirleir, L.30
Abdul Jalil, M.31
Begum, L.32
Horiuchi, M.33
Katunuma, N.34
Nakagawa, S.35
Saheki, T.36
more..
-
9
-
-
77957010062
-
Fractionation of cell components of animal tissues
-
Hogeboom, G. H. 1955. Fractionation of cell components of animal tissues. Methods Enzymol. 1:16-19.
-
(1955)
Methods Enzymol.
, vol.1
, pp. 16-19
-
-
Hogeboom, G.H.1
-
10
-
-
0034990951
-
Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: Tissue and subcellular localization of citrin
-
Iijima, M., A. Jalil, L. Begum, T. Yasuda, N. Yamaguchi, M. Xian Li, N. Kawada, H. Endou, K. Kobayashi, and T. Saheki. 2001. Pathogenesis of adult-onset type II citrullinemia caused by deficiency of citrin, a mitochondrial solute carrier protein: tissue and subcellular localization of citrin. Adv. Enzyme Regul. 41:325-342.
-
(2001)
Adv. Enzyme Regul.
, vol.41
, pp. 325-342
-
-
Iijima, M.1
Jalil, A.2
Begum, L.3
Yasuda, T.4
Yamaguchi, N.5
Xian Li, M.6
Kawada, N.7
Endou, H.8
Kobayashi, K.9
Saheki, T.10
-
11
-
-
0034771008
-
Type II (adult onset) citrullinaemia: Clinical pictures and the therapeutic effect of liver transplantation
-
Ikeda, S., M. Yazaki, Y. Takei, T. Ikegami, Y. Hashikura, S. Kawasaki, M. Iwai, K. Kobayashi, and T. Saheki. 2001. Type II (adult onset) citrullinaemia: clinical pictures and the therapeutic effect of liver transplantation. J. Neurol. Neurosurg. Psychiatry 71:663-670.
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.71
, pp. 663-670
-
-
Ikeda, S.1
Yazaki, M.2
Takei, Y.3
Ikegami, T.4
Hashikura, Y.5
Kawasaki, S.6
Iwai, M.7
Kobayashi, K.8
Saheki, T.9
-
12
-
-
0038217975
-
Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: A case report of siblings showing homozygous SLC25A13 mutation with and without the disease
-
Imamura, Y., K. Kobayashi, T. Shibatou, S. Aburada, K. Tahara, O. Kubozono, and T. Saheki. 2003. Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: a case report of siblings showing homozygous SLC25A13 mutation with and without the disease. Hepatol. Res. 26:68-72.
-
(2003)
Hepatol. Res.
, vol.26
, pp. 68-72
-
-
Imamura, Y.1
Kobayashi, K.2
Shibatou, T.3
Aburada, S.4
Tahara, K.5
Kubozono, O.6
Saheki, T.7
-
13
-
-
0030904811
-
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
-
Kobayashi, K., M. Horiuchi, and T. Saheki. 1997. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology 25:1160-1165.
-
(1997)
Hepatology
, vol.25
, pp. 1160-1165
-
-
Kobayashi, K.1
Horiuchi, M.2
Saheki, T.3
-
14
-
-
0001585970
-
Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein
-
R. Pochet, R. Donato, J. Haiech, C. W. Heizmann, and V. Gerke (ed.). Kluwer Academic Publishers Dordrecht, The Netherlands
-
Kobayashi, K., M. Ijima, T. Yasuda, D. S. Sinasac, N. Yamaguchi, L.-C. Tsui, S. W. Scherer, and T. Saheki. 2000. Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein, p. 565-587. In R. Pochet, R. Donato, J. Haiech, C. W. Heizmann, and V. Gerke (ed.), Calcium: the molecular basis of calcium action in biology and medicine. Kluwer Academic Publishers Dordrecht, The Netherlands.
-
(2000)
Calcium: The Molecular Basis of Calcium Action in Biology and Medicine
, pp. 565-587
-
-
Kobayashi, K.1
Ijima, M.2
Yasuda, T.3
Sinasac, D.S.4
Yamaguchi, N.5
Tsui, L.-C.6
Scherer, S.W.7
Saheki, T.8
-
15
-
-
0025335712
-
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
-
Kobayashi, K., M. J. Jackson, D. B. Tick, W. E. O'Brien, and A. L. Beaudet. 1990. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J. Biol. Chem. 265:11361-11367.
-
(1990)
J. Biol. Chem.
, vol.265
, pp. 11361-11367
-
-
Kobayashi, K.1
Jackson, M.J.2
Tick, D.B.3
O'Brien, W.E.4
Beaudet, A.L.5
-
16
-
-
0029083831
-
Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia
-
Kobayashi, K., M. Nakata, H. Terazono, T. Shinsato, and T. Saheki. 1995. Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia. FEBS Lett. 372:69-73.
-
(1995)
FEBS Lett.
, vol.372
, pp. 69-73
-
-
Kobayashi, K.1
Nakata, M.2
Terazono, H.3
Shinsato, T.4
Saheki, T.5
-
17
-
-
0022527332
-
Messenger RNA coding for argininosuccinate synthetase in citrullinemia
-
Kobayashi, K., T. Saheki, Y. Imamura, T. Noda, I. Inoue, S. Matuo, S. Hagihara, H. Nomiyama, Y. Jinno, and K. Shimada. 1986. Messenger RNA coding for argininosuccinate synthetase in citrullinemia. Am, J. Hum. Genet. 38:667-680.
-
(1986)
Am, J. Hum. Genet.
, vol.38
, pp. 667-680
-
-
Kobayashi, K.1
Saheki, T.2
Imamura, Y.3
Noda, T.4
Inoue, I.5
Matuo, S.6
Hagihara, S.7
Nomiyama, H.8
Jinno, Y.9
Shimada, K.10
-
18
-
-
0027429389
-
A search for the primary abnormality in adult-onset type II citrullinemia
-
Kobayashi, K., N. Shaheen, R. Kumashiro, K. Tanikawa, W. E. O'Brien, A. L. Beaudet, and T. Saheki. 1993. A search for the primary abnormality in adult-onset type II citrullinemia. Am. J. Hum. Genet. 53:1024-1030.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1024-1030
-
-
Kobayashi, K.1
Shaheen, N.2
Kumashiro, R.3
Tanikawa, K.4
O'Brien, W.E.5
Beaudet, A.L.6
Saheki, T.7
-
19
-
-
0033037729
-
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
-
Kobayashi, K., D. S. Sinasac, M. Iijima, A. P. Boright, L. Begum, J. R. Lee, T. Yasuda, S. Ikeda, R. Hirano, H. Terazono, M. A. Crackower, I. Kondo, L. C. Tsui, S. W. Scherer, and T. Saheki. 1999. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 22:159-163.
-
(1999)
Nat. Genet.
, vol.22
, pp. 159-163
-
-
Kobayashi, K.1
Sinasac, D.S.2
Iijima, M.3
Boright, A.P.4
Begum, L.5
Lee, J.R.6
Yasuda, T.7
Ikeda, S.8
Hirano, R.9
Terazono, H.10
Crackower, M.A.11
Kondo, I.12
Tsui, L.C.13
Scherer, S.W.14
Saheki, T.15
-
20
-
-
0043205487
-
Interrelations between gluconeogenesis and urea synthesis
-
R. W. Hanson, M. A. Mehlman, and H, A. Lardy (ed.). Wiley, New York, N.Y.
-
Krebs, H. A., P. Lund, and M. Stubbs. 1976. Interrelations between gluconeogenesis and urea synthesis, p. 269-291. In R. W. Hanson, M. A. Mehlman, and H, A. Lardy (ed.), Gluconeogenesis, its regulation in mammalian species. Wiley, New York, N.Y.
-
(1976)
Gluconeogenesis, Its Regulation in Mammalian Species
, pp. 269-291
-
-
Krebs, H.A.1
Lund, P.2
Stubbs, M.3
-
21
-
-
0015009417
-
Interrelationships between malate-aspartate shuttle and citric acid cycle in rat heart mitochondria
-
LaNoue, K. F., and J. R. Williamson. 1971. Interrelationships between malate-aspartate shuttle and citric acid cycle in rat heart mitochondria. Metabolism 20:119-140.
-
(1971)
Metabolism
, vol.20
, pp. 119-140
-
-
LaNoue, K.F.1
Williamson, J.R.2
-
22
-
-
0032791144
-
Aberrations of ammonia metabolism in ornithine carbamoyl-transferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator
-
Li, M. X., T. Nakajima, T. Fukushige, K. Kobayashi, N. Seiler, and T. Saheki. 1999. Aberrations of ammonia metabolism in ornithine carbamoyl-transferase-deficient spf-ash mice and their prevention by treatment with urea cycle intermediate amino acids and an ornithine aminotransferase inactivator. Biochim. Biophys. Acta 1455:1-11.
-
(1999)
Biochim. Biophys. Acta
, vol.1455
, pp. 1-11
-
-
Li, M.X.1
Nakajima, T.2
Fukushige, T.3
Kobayashi, K.4
Seiler, N.5
Saheki, T.6
-
23
-
-
71849104860
-
Protein measurement with the Folin phenol reagent
-
Lowry, O. H., N. J. Rosebrough, A. L. Farr, and R. J. Randall. 1951. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193:265-275.
-
(1951)
J. Biol. Chem.
, vol.193
, pp. 265-275
-
-
Lowry, O.H.1
Rosebrough, N.J.2
Farr, A.L.3
Randall, R.J.4
-
24
-
-
34249304117
-
Citrullinemia: A new aminoaciduria associated with mental retardation
-
McMurray, W. C., F. Mohyuddin, R. J. Rossiter, J. C. Rathburn, G. H. Valentine, S. J. Koegler, and D. E. Zarfas. 1962. Citrullinemia: a new aminoaciduria associated with mental retardation. Lancet 1:138
-
(1962)
Lancet
, vol.1
, pp. 138
-
-
McMurray, W.C.1
Mohyuddin, F.2
Rossiter, R.J.3
Rathburn, J.C.4
Valentine, G.H.5
Koegler, S.J.6
Zarfas, D.E.7
-
25
-
-
0018150028
-
Interrelationships between gluconeogenesis and ureogenesis in isolated hepatocytes
-
Meijer, A. J.,J. A. Gimpel, G. Deleeuw, M. E. Tischler, J. M. Tager, and J. R. Williamson. 1978. Interrelationships between gluconeogenesis and ureogenesis in isolated hepatocytes. J. Biol. Chem. 253:2308-2320.
-
(1978)
J. Biol. Chem.
, vol.253
, pp. 2308-2320
-
-
Meijer, A.J.1
Gimpel, J.A.2
Deleeuw, G.3
Tischler, M.E.4
Tager, J.M.5
Williamson, J.R.6
-
26
-
-
0024284028
-
A simple salting out procedure for extracting DNA from human nucleated cells
-
Miller, S. A., D. D. Dykes, and H. F. Polesky. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16:1215.
-
(1988)
Nucleic Acids Res.
, vol.16
, pp. 1215
-
-
Miller, S.A.1
Dykes, D.D.2
Polesky, H.F.3
-
27
-
-
0025907503
-
Estimated frequency of urea cycle enzymopathies in Japan
-
Nagata, N., I. Matsuda, and K. Oyanagi. 1991. Estimated frequency of urea cycle enzymopathies in Japan. Am. J. Med. Genet. 39:228-229.
-
(1991)
Am. J. Med. Genet.
, vol.39
, pp. 228-229
-
-
Nagata, N.1
Matsuda, I.2
Oyanagi, K.3
-
28
-
-
0027321548
-
Derivation of completely cell culture-derived mice from early-passage embryonic stem cells
-
Nagy, A., J. Rossant, R. Nagy, W. Abramow-Newerly, and J. C. Roder. 1993. Derivation of completely cell culture-derived mice from early-passage embryonic stem cells. Proc. Natl. Acad. Sci. USA 90:8424-8428.
-
(1993)
Proc. Natl. Acad. Sci. USA
, vol.90
, pp. 8424-8428
-
-
Nagy, A.1
Rossant, J.2
Nagy, R.3
Abramow-Newerly, W.4
Roder, J.C.5
-
29
-
-
0036215646
-
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening
-
Naito, E., M. Ito, S. Matsuura, Yokota, T. Saijo, Y. Ogawa, S. Kitamura, K. Kobayashi, T. Saheki, Y. Nishimura, N. Sakura, and Y. Kuroda. 2002. Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening. J. Inherit. Metab. Dis. 25:71-76.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 71-76
-
-
Naito, E.1
Ito, M.2
Matsuura, S.3
Yokota4
Saijo, T.5
Ogawa, Y.6
Kitamura, S.7
Kobayashi, K.8
Saheki, T.9
Nishimura, Y.10
Sakura, N.11
Kuroda, Y.12
-
30
-
-
0030911650
-
The effect of camitine on ketogenesis in perfused livers from juvenile visceral steatosis mice with systemic carnitine deficiency
-
Nakajima, T., M. Horiuchi, H. Yamanaka, Z. Kizaki, F. Inoue, N. Kodo, A. Kinugasa, T. Saheki, and T. Sawada. 1997. The effect of camitine on ketogenesis in perfused livers from juvenile visceral steatosis mice with systemic carnitine deficiency. Pediatr. Res. 42:108-113.
-
(1997)
Pediatr. Res
, vol.42
, pp. 108-113
-
-
Nakajima, T.1
Horiuchi, M.2
Yamanaka, H.3
Kizaki, Z.4
Inoue, F.5
Kodo, N.6
Kinugasa, A.7
Saheki, T.8
Sawada, T.9
-
31
-
-
0035099306
-
Neonatal presentation of adult-onset type II citrullinemia
-
Ohura, T., K. Kobayashi, Y. Tazawa, I. Nishi, D. Abukawa, O. Sakamoto, K. Iinuma, and T. Saheki. 2001. Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 108:87-90.
-
(2001)
Hum. Genet.
, vol.108
, pp. 87-90
-
-
Ohura, T.1
Kobayashi, K.2
Tazawa, Y.3
Nishi, I.4
Abukawa, D.5
Sakamoto, O.6
Iinuma, K.7
Saheki, T.8
-
32
-
-
17944378173
-
2+-stimulated aspartate/glutamate transporters in mitochondria
-
2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 20:5060-5069.
-
(2001)
EMBO J.
, vol.20
, pp. 5060-5069
-
-
Palmieri, L.1
Pardo, B.2
Lasorsa, F.M.3
Del Arco, A.4
Kobayashi, K.5
Lijima, M.6
Runswick, M.J.7
Walker, J.E.8
Saheki, T.9
Satrústegui, J.10
Palmieri, F.11
-
33
-
-
0023245483
-
Development of enzymes of glycerol metabolism in human fetal liver
-
Sadava, D., M. Depper, M. Gilbert, B. Bernard, and E. R. McCabe. 1987. Development of enzymes of glycerol metabolism in human fetal liver. Biol. Neonate 52:26-32.
-
(1987)
Biol. Neonate
, vol.52
, pp. 26-32
-
-
Sadava, D.1
Depper, M.2
Gilbert, M.3
Bernard, B.4
McCabe, E.R.5
-
34
-
-
0036299910
-
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
-
Saheki, T., and K. Kobayashi. 2002. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 47: 333-341.
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 333-341
-
-
Saheki, T.1
Kobayashi, K.2
-
35
-
-
0023076114
-
Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
-
Saheki, T., K. Kobayashi, and I. Inoue. 1987. Hereditary disorders of the urea cycle in man: biochemical and molecular approaches. Rev. Physiol. Biochem. Pharmacol. 108:21-68.
-
(1987)
Rev. Physiol. Biochem. Pharmacol.
, vol.108
, pp. 21-68
-
-
Saheki, T.1
Kobayashi, K.2
Inoue, I.3
-
36
-
-
0023546887
-
Increased urinary excretion of argininosuccinate in type II citrullinemia
-
Saheki, T., K. Kobayashi, I. Inoue, S. Matuo, S. Hagihara, and T. Noda. 1987. Increased urinary excretion of argininosuccinate in type II citrullinemia. Clin. Chim. Acta 170:297-304.
-
(1987)
Clin. Chim. Acta
, vol.170
, pp. 297-304
-
-
Saheki, T.1
Kobayashi, K.2
Inoue, I.3
Matuo, S.4
Hagihara, S.5
Noda, T.6
-
37
-
-
84996008995
-
Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline
-
Saheki, T., K. Kobayashi, T. Miura, S. Hashimoto, Y. Ueno, T. Yamasaki, H. Araki, H. Nara, Y. Shiozaki, Y. Sameshima, M. Suzuki, Y. Yamauchi, Y. Sakazume, K. Akiyama, and Y. Yamamura. 1986. Serum amino acid pattern of type II citrullinemic patients and effect of oral administration of citrulline. J. Clin. Biochem. Nutr. 1:129-142.
-
(1986)
J. Clin. Biochem. Nutr.
, vol.1
, pp. 129-142
-
-
Saheki, T.1
Kobayashi, K.2
Miura, T.3
Hashimoto, S.4
Ueno, Y.5
Yamasaki, T.6
Araki, H.7
Nara, H.8
Shiozaki, Y.9
Sameshima, Y.10
Suzuki, M.11
Yamauchi, Y.12
Sakazume, Y.13
Akiyama, K.14
Yamamura, Y.15
-
38
-
-
0001908118
-
Arginine metabolism in citrullinemic patients
-
A. Mori, B. D. Cohen, and A. Lowenthal (ed.), Plenum Press, New York, N.Y.
-
Saheki, T., M. Sase, K. Nakano, and Y. Yagi. 1985. Arginine metabolism in citrullinemic patients, p. 149-158. In A. Mori, B. D. Cohen, and A. Lowenthal (ed.), Guanidines, Plenum Press, New York, N.Y.
-
(1985)
Guanidines
, pp. 149-158
-
-
Saheki, T.1
Sase, M.2
Nakano, K.3
Yagi, Y.4
-
39
-
-
0019471444
-
Qualitative and quantitative abnormalities of arginino-succinate synthetase in citrullinemia
-
Saheki, T., A. Ueda, M. Hosoya, K. Kusumi, S. Takada, M. Tsuda, and T. Katsunuma. 1981. Qualitative and quantitative abnormalities of arginino-succinate synthetase in citrullinemia. Clin. Chim. Acta 109:325-335.
-
(1981)
Clin. Chim. Acta
, vol.109
, pp. 325-335
-
-
Saheki, T.1
Ueda, A.2
Hosoya, M.3
Kusumi, K.4
Takada, S.5
Tsuda, M.6
Katsunuma, T.7
-
40
-
-
0020349486
-
Enzymatic analysis of citrullinemia (12 cases) in Japan
-
Saheki, T., A. Ueda, M. Hosoya, M. Sase, K. Nakano, and T. Katsunuma. 1983. Enzymatic analysis of citrullinemia (12 cases) in Japan. Adv. Exp. Med. Biol. 153:63-76.
-
(1983)
Adv. Exp. Med. Biol.
, vol.153
, pp. 63-76
-
-
Saheki, T.1
Ueda, A.2
Hosoya, M.3
Sase, M.4
Nakano, K.5
Katsunuma, T.6
-
41
-
-
0020042186
-
Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients
-
Saheki, T., A. Ueda, K. Iizima, N. Yamada, K. Kobayashi, K. Takahashi, and T. Katsunuma. 1982. Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients. Clin. Chim. Acta 118:93-97.
-
(1982)
Clin. Chim. Acta
, vol.118
, pp. 93-97
-
-
Saheki, T.1
Ueda, A.2
Iizima, K.3
Yamada, N.4
Kobayashi, K.5
Takahashi, K.6
Katsunuma, T.7
-
42
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
-
Sambrook, J., and D. W. Russell. 2001. Molecular cloning: a laboratory manual, 3rd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, N.Y.
-
(2001)
Molecular Cloning: A Laboratory Manual, 3rd Ed.
-
-
Sambrook, J.1
Russell, D.W.2
-
43
-
-
0029081318
-
Reducing equivalent shuttles in developing porcine myocardium: Enhanced capacity in the newborn heart
-
Scholz, T. D., and S. L. Koppenhafer. 1995. Reducing equivalent shuttles in developing porcine myocardium: enhanced capacity in the newborn heart. Pediatr. Res. 38:221-227.
-
(1995)
Pediatr. Res.
, vol.38
, pp. 221-227
-
-
Scholz, T.D.1
Koppenhafer, S.L.2
-
44
-
-
0028222402
-
The capacity of the malate-aspartate shuttle differs between periportal and perivenous hepatocytes from rats
-
Shiota, M., M. Hiramatsu, Y. Fujimoto, M. Moriyama, K. Kimura, M. Ohta, and T. Sugano. 1994. The capacity of the malate-aspartate shuttle differs between periportal and perivenous hepatocytes from rats. Arch. Biochem. Biophys. 308:349-356.
-
(1994)
Arch. Biochem. Biophys.
, vol.308
, pp. 349-356
-
-
Shiota, M.1
Hiramatsu, M.2
Fujimoto, Y.3
Moriyama, M.4
Kimura, K.5
Ohta, M.6
Sugano, T.7
-
45
-
-
0033400205
-
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue
-
Sinasac, D. S., M. A. Crackower, J. R. Lee, K. Kobayashi, T. Saheki, S. W. Scherer, and L. C. Tsui. 1999. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Genomics 62:289-292.
-
(1999)
Genomics
, vol.62
, pp. 289-292
-
-
Sinasac, D.S.1
Crackower, M.A.2
Lee, J.R.3
Kobayashi, K.4
Saheki, T.5
Scherer, S.W.6
Tsui, L.C.7
-
46
-
-
0020039930
-
Rapid determination of ammonia in whole blood and plasma using flow injection analysis
-
Svensson, G., and T. Anfalt. 1982. Rapid determination of ammonia in whole blood and plasma using flow injection analysis. Clin. Chim. Acta 119:7-14.
-
(1982)
Clin. Chim. Acta
, vol.119
, pp. 7-14
-
-
Svensson, G.1
Anfalt, T.2
-
47
-
-
0036460375
-
Neonatal intrahepatic cholestasis caused by citrin deficiency: Severe hepatic dysfunction in an infant requiring liver transplantation
-
Tamamori, A., Y. Okano, H. Ozaki, A. Fujimoto, M. Kajiwara, K. Fukuda, K. Kobayashi, T. Saheki, Y. Tagami, and T. Yamano. 2002. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur. J. Pediatr., 161:609-613.
-
(2002)
Eur. J. Pediatr.
, vol.161
, pp. 609-613
-
-
Tamamori, A.1
Okano, Y.2
Ozaki, H.3
Fujimoto, A.4
Kajiwara, M.5
Fukuda, K.6
Kobayashi, K.7
Saheki, T.8
Tagami, Y.9
Yamano, T.10
-
48
-
-
0035023473
-
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
-
Tazawa, Y., K. Kobayashi, T. Ohura, D. Abukawa, F. Nishinomiya, Y. Hosoda, M. Yamashita, I. Nagata, Y. Kono, T. Yasuda, N. Yamaguchi, and T. Saheki. 2001. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J. Pediatr. 138:735-740.
-
(2001)
J. Pediatr.
, vol.138
, pp. 735-740
-
-
Tazawa, Y.1
Kobayashi, K.2
Ohura, T.3
Abukawa, D.4
Nishinomiya, F.5
Hosoda, Y.6
Yamashita, M.7
Nagata, I.8
Kono, Y.9
Yasuda, T.10
Yamaguchi, N.11
Saheki, T.12
-
49
-
-
0035005987
-
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
-
Tomomasa, T., K. Kobayashi, H. Kaneko, H. Shimura, T. Fukusato, M. Tabata, Y. Inoue, S. Ohwada, M. Kasahara, Y. Morishita, M. Kimura, T. Saheki, and A. Morikawa. 2001. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J. Pediatr. 138:741-743.
-
(2001)
J. Pediatr.
, vol.138
, pp. 741-743
-
-
Tomomasa, T.1
Kobayashi, K.2
Kaneko, H.3
Shimura, H.4
Fukusato, T.5
Tabata, M.6
Inoue, Y.7
Ohwada, S.8
Kasahara, M.9
Morishita, Y.10
Kimura, M.11
Saheki, T.12
Morikawa, A.13
-
50
-
-
77957001185
-
Assays of intermediates of the citric acid cycle and related compounds by fluorometric enzyme methods
-
J. M. Lowenstein (ed.). Academic Press, New York, N.Y.
-
Williamson, J. R., and B. E. Corkey. 1969. Assays of intermediates of the citric acid cycle and related compounds by fluorometric enzyme methods, p. 434-509. In J. M. Lowenstein (ed.), Methods in enzymology: citric acid cycle. Academic Press, New York, N.Y.
-
(1969)
Methods in Enzymology: Citric Acid Cycle
, pp. 434-509
-
-
Williamson, J.R.1
Corkey, B.E.2
-
51
-
-
0015872938
-
Mitochondrial-cytosolic interactions in cardiac tissue: Role of the malate-aspartate cycle in the removal of glycolytic NADH from the cytosol
-
Williamson, J. R., B. Safer, K. F. LaNoue, C. M. Smith, and E. Walajtys. 1973. Mitochondrial-cytosolic interactions in cardiac tissue: role of the malate-aspartate cycle in the removal of glycolytic NADH from the cytosol. Symp. Soc. Exp. Biol. 27:241-281.
-
(1973)
Symp. Soc. Exp. Biol.
, vol.27
, pp. 241-281
-
-
Williamson, J.R.1
Safer, B.2
LaNoue, K.F.3
Smith, C.M.4
Walajtys, E.5
-
52
-
-
0036165970
-
Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations
-
Yamaguchi, N., K. Kobayashi, T. Yasuda, I. Nishi, M. Iijima, M. Nakagawa, M. Osame, I. Kondo, and T. Saheki. 2002. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum. Mutat. 19:122-130.
-
(2002)
Hum. Mutat.
, vol.19
, pp. 122-130
-
-
Yamaguchi, N.1
Kobayashi, K.2
Yasuda, T.3
Nishi, I.4
Iijima, M.5
Nakagawa, M.6
Osame, M.7
Kondo, I.8
Saheki, T.9
-
53
-
-
17744397286
-
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
-
Yasuda, T., N. Yamaguchi, K. Kobayashi, I. Nishi, H. Horinouchi, M. A. Jalil, M. X. Li, M. Ushikai, M. Iijima, I. Kondo, and T. Saheki. 2000., Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia. Hum. Genet. 107:537-545.
-
(2000)
Hum. Genet.
, vol.107
, pp. 537-545
-
-
Yasuda, T.1
Yamaguchi, N.2
Kobayashi, K.3
Nishi, I.4
Horinouchi, H.5
Jalil, M.A.6
Li, M.X.7
Ushikai, M.8
Iijima, M.9
Kondo, I.10
Saheki, T.11
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