-
1
-
-
0001034416
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. 7th ed. McGraw-Hill Information Service Co., New York
-
Brishilow SW, Horwich AL. Urea cycle enzymes. in: The Metabolic and Molecular Basis of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. 7th ed. McGraw-Hill Information Service Co., New York, 1995: 1187.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1187
-
-
Brishilow, S.W.1
Horwich, A.L.2
-
2
-
-
0023076114
-
Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
-
Saheki T, Kobayashi K, Inoue I. Hereditary disorders of the urea cycle in man: biochemical and molecular approaches. Rev Physiol Biochem Pharmacol 108: 21-68, 1987.
-
(1987)
Rev. Physiol. Biochem. Pharmacol.
, vol.108
, pp. 21-68
-
-
Saheki, T.1
Kobayashi, K.2
Inoue, I.3
-
3
-
-
0033037729
-
The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein
-
Kobayashi K, Sinasac DS, Iijima M, et al. The gene mutated in adult-onset type II citrullinemia encodes a putative mitochondrial carrier protein. Nat Genet 22: 159-163, 1999.
-
(1999)
Nat. Genet.
, vol.22
, pp. 159-163
-
-
Kobayashi, K.1
Sinasac, D.S.2
Iijima, M.3
-
4
-
-
0034771008
-
Type II (adult onset) citrullinemia: Clinical pictures and the therapeutic effect of liver transplantation
-
Ikeda S, Yazaki M, Takei Y, et al. Type II (adult onset) citrullinemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry 71: 663-670, 2001.
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.71
, pp. 663-670
-
-
Ikeda, S.1
Yazaki, M.2
Takei, Y.3
-
5
-
-
0036299910
-
Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)
-
Saheki T, Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Human Genet 47: 333-341, 2002.
-
(2002)
Human Genet.
, vol.47
, pp. 333-341
-
-
Saheki, T.1
Kobayashi, K.2
-
6
-
-
0035023473
-
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
-
Tazawa Y, Kobayashi K, Ohura T, et al. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J Pediatr 138: 735-740, 2001.
-
(2001)
J. Pediatr.
, vol.138
, pp. 735-740
-
-
Tazawa, Y.1
Kobayashi, K.2
Ohura, T.3
-
7
-
-
0035005987
-
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
-
Tomomasa T, Kobayashi K, Kaneko H, et al. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J Pediatr 138: 741-743, 2001.
-
(2001)
J. Pediatr.
, vol.138
, pp. 741-743
-
-
Tomomasa, T.1
Kobayashi, K.2
Kaneko, H.3
-
8
-
-
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, Yamaguchi N, Kobayashi K, et al. 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.
-
(2000)
Hum. Genet.
, vol.107
, pp. 537-545
-
-
Yasuda, T.1
Yamaguchi, N.2
Kobayashi, K.3
-
9
-
-
0034218582
-
Type II citrullinemia in an elderly patient treated with living related partial liver transplantation
-
Takenaka K, Yasuda I, Araki H, et al. Type II citrullinemia in an elderly patient treated with living related partial liver transplantation. Intern Med 39: 553-558, 2000.
-
(2000)
Intern. Med.
, vol.39
, pp. 553-558
-
-
Takenaka, K.1
Yasuda, I.2
Araki, H.3
-
10
-
-
0032461211
-
Adult-onset type II citrullinemia in a patient undergoing continuous ambulatory peritoneal dialysis
-
(in Japanese with English Abstract)
-
Ogawa K, Takashima S, Hirade S, Nimura A, Ueno H, Inoue H. Adult-onset type II citrullinemia in a patient undergoing continuous ambulatory peritoneal dialysis. Rinsho Shinkeigaku (Clin Neurol) 38: 826-830, 1998 (in Japanese with English Abstract).
-
(1998)
Rinsho Shinkeigaku (Clin Neurol)
, vol.38
, pp. 826-830
-
-
Ogawa, K.1
Takashima, S.2
Hirade, S.3
Nimura, A.4
Ueno, H.5
Inoue, H.6
-
11
-
-
0027054382
-
A case of citrullinemia associated with ACTH deficiency, rapidly developing coma
-
(in Japanese with English Abstract)
-
Ishii A, Ohkosbi N, Oka Y, Ban S, Takahashi A. A case of citrullinemia associated with ACTH deficiency, rapidly developing coma. Rinsho Shinkeigaku (Clin Neurol) 32: 853-858, 1992 (in Japanese with English Abstract).
-
(1992)
Rinsho Shinkeigaku (Clin Neurol)
, vol.32
, pp. 853-858
-
-
Ishii, A.1
Ohkosbi, N.2
Oka, Y.3
Ban, S.4
Takahashi, A.5
-
12
-
-
0027445658
-
Type II citrullinemia triggered by acetaminophen
-
(in Japanese with English Abstract)
-
Shiohama N, Sugita Y, Imamura N, Sato T, Mizuno Y. Type II citrullinemia triggered by acetaminophen. No To Shinkei (Brain Nerve) 45: 865-870, 1993 (in Japanese with English Abstract).
-
(1993)
No To Shinkei (Brain Nerve)
, vol.45
, pp. 865-870
-
-
Shiohama, N.1
Sugita, Y.2
Imamura, N.3
Sato, T.4
Mizuno, Y.5
-
13
-
-
0001585970
-
Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein
-
Pochet R, Donato R, Haiech J, Heizmann C, Gerke V Eds. Kluwer Academic Publishers, Deventer, The Netherlands
-
Kobayashi K, Iijima M, Yasuda T, et al. Type II citrullinemia (citrin deficiency): A mysterious disease caused by a defect of calcium-binding mitochondrial carrier protein. in: Calcium: The Molecular Basis of Calcium Action in Biology and Medicine. Pochet R, Donato R, Haiech J, Heizmann C, Gerke V Eds. Kluwer Academic Publishers, Deventer, The Netherlands, 2000: 565-587.
-
(2000)
Calcium: The Molecular Basis of Calcium Action in Biology and Medicine
, pp. 565-587
-
-
Kobayashi, K.1
Iijima, M.2
Yasuda, T.3
-
14
-
-
0025372670
-
Promoting effect of citrulline in hepatocarcinogenesis: Possible mechanism in hyper-citrullinemia
-
Nakamura M, Okamoto Y, Morita T, et al. Promoting effect of citrulline in hepatocarcinogenesis: Possible mechanism in hyper-citrullinemia. Hepatology 11: 819-823, 1990.
-
(1990)
Hepatology
, vol.11
, pp. 819-823
-
-
Nakamura, M.1
Okamoto, Y.2
Morita, T.3
-
15
-
-
0036841764
-
Nonalcoholic steatohepatitis: What we know in the new millennium
-
Harrison SA, Kadakia S, Lang KA, Schenker S. Nonalcoholic steatohepatitis: what we know in the new millennium. Am J Gastroenterol 97: 2714-2724, 2002.
-
(2002)
Am. J. Gastroenterol.
, vol.97
, pp. 2714-2724
-
-
Harrison, S.A.1
Kadakia, S.2
Lang, K.A.3
Schenker, S.4
-
16
-
-
0030857966
-
Mitochondrial abnormalities of liver in two children with citrullinaemia
-
Zamora SA, Pinto A, Scott RB, Parsons HG. Mitochondrial abnormalities of liver in two children with citrullinaemia. J Inherit Metab Dis 20: 509-516, 1997.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 509-516
-
-
Zamora, S.A.1
Pinto, A.2
Scott, R.B.3
Parsons, H.G.4
-
17
-
-
0036215646
-
Type II citrullinemia (citrin deficiency) in a neonate with hypergalactosemia detected by mass screening
-
Naito E, Ito M, Matsuura S, et al. Type II citrullinemia (citrin deficiency) in a neonate with hypergalactosemia detected by mass screening. J Inherit Metab Dis 25: 71-76, 2002.
-
(2002)
J. Inherit. Metab. Dis.
, vol.25
, pp. 71-76
-
-
Naito, E.1
Ito, M.2
Matsuura, S.3
-
18
-
-
0035863168
-
Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor
-
Kasahara M, Ohwada S, Takeichi T, et al. Living-related liver transplantation for type II citrullinemia using a graft from heterozygote donor. Transplantation 71: 157-159, 2001.
-
(2001)
Transplantation
, vol.71
, pp. 157-159
-
-
Kasahara, M.1
Ohwada, S.2
Takeichi, T.3
-
19
-
-
8044252824
-
Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation
-
Yazaki M, Ikeda S, Takei Y, et al. Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantation. Transplantation 62: 1679-1684, 1996.
-
(1996)
Transplantation
, vol.62
, pp. 1679-1684
-
-
Yazaki, M.1
Ikeda, S.2
Takei, Y.3
|