-
1
-
-
0026452080
-
Orthotopic liver transplantation in liver based metabolic disorders
-
Mowat AP. Orthotopic liver transplantation in liver based metabolic disorders. Eur. J. Pediatr. 151(Suppl. 1), S32-S38 (1992).
-
(1992)
Eur. J. Pediatr.
, vol.151
, Issue.SUPPL. 1
-
-
Mowat, A.P.1
-
2
-
-
0034331543
-
Bilirubin adsorption therapy and subsequent liver transplantation cured severe bilirubin encephalopathy in a long-term survival patient with Criglerq-Najjar disease type I
-
Kaneko K, Takei Y, Aoki T, Ikeda S, Matsunami H, Lynch S. Bilirubin adsorption therapy and subsequent liver transplantation cured severe bilirubin encephalopathy in a long-term survival patient with Criglerq-Najjar disease type I. Intern. Med. 39, 961-965 (2000).
-
(2000)
Intern. Med.
, vol.39
, pp. 961-965
-
-
Kaneko, K.1
Takei, Y.2
Aoki, T.3
Ikeda, S.4
Matsunami, H.5
Lynch, S.6
-
3
-
-
0023091943
-
Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients
-
Ikeda S, Hanyu N, Hongo M et al. Hereditary generalized amyloidosis with polyneuropathy. Clinicopathological study of 65 Japanese patients. Brain 110, 315-337 (1987).
-
(1987)
Brain
, vol.110
, pp. 315-337
-
-
Ikeda, S.1
Hanyu, N.2
Hongo, M.3
-
4
-
-
77957180065
-
A peculiar form of peripheral neuropathy: Familial atypical generalized amyloidosis with special involvement of the peripheral nerves
-
Andrade C. A peculiar form of peripheral neuropathy: familial atypical generalized amyloidosis with special involvement of the peripheral nerves. Brain 110, 408-427 (1952).
-
(1952)
Brain
, vol.110
, pp. 408-427
-
-
Andrade, C.1
-
5
-
-
84981368487
-
Familial amyloidosis with polyneuropathy
-
Andersson R. Familial amyloidosis with polyneuropathy. Acta Med. Scand. 188, 85-94 (1970).
-
(1970)
Acta Med. Scand.
, vol.188
, pp. 85-94
-
-
Andersson, R.1
-
6
-
-
0014300978
-
Polyneuritic amyloidosis in a Japanese family
-
Araki S, Mawatari S, Ohta M, Nakajima A, Kuroiwa Y. Polyneuritic amyloidosis in a Japanese family. Arch. Neurol. 18, 593-602 (1968).
-
(1968)
Arch. Neurol.
, vol.18
, pp. 593-602
-
-
Araki, S.1
Mawatari, S.2
Ohta, M.3
Nakajima, A.4
Kuroiwa, Y.5
-
7
-
-
0018904859
-
Studies on familial amyloid polyneuropathy in Ogawa village, Japan
-
Kito S, Itoga E, Kamiya K, Kishida T, Yamamura Y. Studies on familial amyloid polyneuropathy in Ogawa village, Japan. Eur. Neurol. 19, 141-151 (1980).
-
(1980)
Eur. Neurol.
, vol.19
, pp. 141-151
-
-
Kito, S.1
Itoga, E.2
Kamiya, K.3
Kishida, T.4
Yamamura, Y.5
-
8
-
-
0034032166
-
Tabulation of transthyretin (TTR) variants as of 1/1/2000
-
Connors LH, Richardson AM, Théberge R, Costello CE. Tabulation of transthyretin (TTR) variants as of 1/1/2000. Amyloid. Int. J. Exp. Clin. Invest. 7, 54-69 (2000).
-
(2000)
Amyloid. Int. J. Exp. Clin. Invest.
, vol.7
, pp. 54-69
-
-
Connors, L.H.1
Richardson, A.M.2
Théberge, R.3
Costello, C.E.4
-
9
-
-
0021227547
-
Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type)
-
Nakazato M, Kangawa K, Minamino N, Tawara S, Matsuo H, Araki S. Radioimmunoassay for detecting abnormal prealbumin in the serum for diagnosis of familial amyloidotic polyneuropathy (Japanese type). Biochem. Biophys. Res. Commu. 122, 719-725 (1984).
-
(1984)
Biochem. Biophys. Res. Commu.
, vol.122
, pp. 719-725
-
-
Nakazato, M.1
Kangawa, K.2
Minamino, N.3
Tawara, S.4
Matsuo, H.5
Araki, S.6
-
10
-
-
0027103947
-
Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy
-
Ikeda S, Nakano T, Yanagisawa N, Nakazato M, Tsukagoshi H. Asymptomatic homozygous gene carrier in a family with type I familial amyloid polyneuropathy. Eur. Neurol 32, 308-313 (1992).
-
(1992)
Eur. Neurol.
, vol.32
, pp. 308-313
-
-
Ikeda, S.1
Nakano, T.2
Yanagisawa, N.3
Nakazato, M.4
Tsukagoshi, H.5
-
11
-
-
0033428635
-
Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy
-
Tachibana N, Tokuda T, Yoshida K et al. Usefulness of MALDI/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy. Amyloid: Int. J. Exp. Clin. Invest. 6, 282-288 (1999).
-
(1999)
Amyloid: Int. J. Exp. Clin. Invest.
, vol.6
, pp. 282-288
-
-
Tachibana, N.1
Tokuda, T.2
Yoshida, K.3
-
12
-
-
0037046222
-
Familial transthyretin-type amyloid polyneuropathy in Japan. Clinical and genetic heterogeneity
-
Ikeda S, Nakazato M, Ando Y, Sobue G. Familial transthyretin-type amyloid polyneuropathy in Japan. Clinical and genetic heterogeneity. Neurology 58, 1001-1007 (2002). Describes the detailed clinical pictures of familial amyloid polyneuropathy including the widespread clinical variations.
-
(2002)
Neurology
, vol.58
, pp. 1001-1007
-
-
Ikeda, S.1
Nakazato, M.2
Ando, Y.3
Sobue, G.4
-
13
-
-
0032863087
-
Late-onset familial amyloid polyneuropathy type I (transthyretin Met 30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features
-
Misu K, Hattori N, Nagamatsu M et al. Late-onset familial amyloid polyneuropathy type I (transthyretin Met 30-associated familial amyloid polyneuropathy) unrelated to endemic focus in Japan. Clinicopathological and genetic features. Brain 122, 1951-1962 (1999).
-
(1999)
Brain
, vol.122
, pp. 1951-1962
-
-
Misu, K.1
Hattori, N.2
Nagamatsu, M.3
-
15
-
-
0030942753
-
Late onset type I familial amyloidotic polyneuropathy: Presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type
-
Takahashi K, Sakashita N, Ando Y, Suga M, Ando M. Late onset type I familial amyloidotic polyneuropathy: presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type. Pathol. Int. 47, 353-359 (1997).
-
(1997)
Pathol. Int.
, vol.47
, pp. 353-359
-
-
Takahashi, K.1
Sakashita, N.2
Ando, Y.3
Suga, M.4
Ando, M.5
-
16
-
-
0032703097
-
A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy and the presence of giant cells
-
Nakamura Y, Yutani C, Nakazato M, Date Y, Baba T, Goto Y. A case of hereditary amyloidosis transthyretin variant Met 30 with amyloid cardiomyopathy, less polyneuropathy and the presence of giant cells. Pathol. Int. 49, 898-902 (1999).
-
(1999)
Pathol. Int.
, vol.49
, pp. 898-902
-
-
Nakamura, Y.1
Yutani, C.2
Nakazato, M.3
Date, Y.4
Baba, T.5
Goto, Y.6
-
17
-
-
0031802371
-
Familial amyloid polyneuropathy type I (Portuguese): Distribution and characterization of renal amyloid deposits
-
Lobato L, Beirao I, Guimaraes SM et al. Familial amyloid polyneuropathy type I (Portuguese): distribution and characterization of renal amyloid deposits. Am. J. Kidney Dis. 31, 940-946 (1998).
-
(1998)
Am. J. Kidney Dis.
, vol.31
, pp. 940-946
-
-
Lobato, L.1
Beirao, I.2
Guimaraes, S.M.3
-
18
-
-
0029730803
-
Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp 18Gly)
-
Garzuly F, Wisniewski T, Brirrig F, Budka H. Familial meningocerebrovascular amyloidosis, Hungarian type, with mutant transthyretin (TTR Asp 18Gly). Neurology 47, 1562-1567 (1996).
-
(1996)
Neurology
, vol.47
, pp. 1562-1567
-
-
Garzuly, F.1
Wisniewski, T.2
Brirrig, F.3
Budka, H.4
-
19
-
-
0031055128
-
Transthyretin amyloidosis: A new mutation associated with dementia
-
Petersen RB, Goren H, Cohen M et al. Transthyretin amyloidosis: a new mutation associated with dementia. Ann. Neurol. 41, 307-313 (1997).
-
(1997)
Ann. Neurol.
, vol.41
, pp. 307-313
-
-
Petersen, R.B.1
Goren, H.2
Cohen, M.3
-
20
-
-
0032886881
-
Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser 64
-
Uemichi T, Uitti RJ, Koeppen AH, Donat JR, Benson MD. Oculoleptomeningeal amyloidosis associated with a new transthyretin variant Ser64. Arch. Neurol. 56, 1152-1155 (1999).
-
(1999)
Arch. Neurol.
, vol.56
, pp. 1152-1155
-
-
Uemichi, T.1
Uitti, R.J.2
Koeppen, A.H.3
Donat, J.R.4
Benson, M.D.5
-
21
-
-
0022202960
-
Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues
-
Soprano DR, Herhert J, Soprano K, Schon E, Goodman D. Demonstration of transthyretin mRNA in the brain and other extrahepatic tissues. J. Biol. Chem. 260, 11793-11798 (1985).
-
(1985)
J. Biol. Chem.
, vol.260
, pp. 11793-11798
-
-
Soprano, D.R.1
Herhert, J.2
Soprano, K.3
Schon, E.4
Goodman, D.5
-
23
-
-
0027312398
-
Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis
-
Holmgren G, Ericzon B-G, Groth C-G et al. Clinical improvement and amyloid regression after liver transplantation in hereditary transthyretin amyloidosis. Lancet 341, 1113-1116 (1993).
-
(1993)
Lancet
, vol.341
, pp. 1113-1116
-
-
Holmgren, G.1
Ericzon, B.-G.2
Groth, C.-G.3
-
24
-
-
0037542438
-
-
Familial Amyloidotic Polyneuropathy World Transplant Register (FAPWTR) and the Domino Transplant Register
-
Ericzon B-G. Familial Amyloidotic Polyneuropathy World Transplant Register (FAPWTR) and the Domino Transplant Register. Update on behalf of reporting members of the FAPWTR December (2001).
-
(2001)
Update on Behalf of Reporting Members of the FAPWTR December
-
-
Ericzon, B.-G.1
-
25
-
-
0035997532
-
Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M)
-
Carvalho M de, Conceicao I, Bentes C, Luis MLS. Long-term quantitative evaluation of liver transplantation in familial amyloid polyneuropathy (Portuguese V30M). Amyloid: J. Protein Folding Disord. 9, 126-133 (2002).
-
(2002)
Amyloid: J. Protein Folding Disord.
, vol.9
, pp. 126-133
-
-
De Carvalho, M.1
Conceicao, I.2
Bentes, C.3
Luis, M.L.S.4
-
26
-
-
0028788659
-
Liver transplantation in familial amyloidotic polyneuropathy
-
Suhr OB, Holmgren G, Steen L et al. Liver transplantation in familial amyloidotic polyneuropathy. Transplantation 60, 933-938 (1995).
-
(1995)
Transplantation
, vol.60
, pp. 933-938
-
-
Suhr, O.B.1
Holmgren, G.2
Steen, L.3
-
27
-
-
0029808637
-
Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplnatation
-
Bergethon PR, Sabin TD, Lewis D, Simms RW, Cohen AS, Skinner M. Improvement in the polyneuropathy associated with familial amyloid polyneuropathy after liver transplnatation. Neurology 47, 944-951 (1996).
-
(1996)
Neurology
, vol.47
, pp. 944-951
-
-
Bergethon, P.R.1
Sabin, T.D.2
Lewis, D.3
Simms, R.W.4
Cohen, A.S.5
Skinner, M.6
-
28
-
-
0030821549
-
Impact of liver transplantation on autonomic neuropathy in familial amyloidotic polyneuropathy: An evaluation by spectral analysis of heart rate variability
-
Suhr OB, Wiklund U, Ando Y, Olofsson B-O. Impact of liver transplantation on autonomic neuropathy in familial amyloidotic polyneuropathy: an evaluation by spectral analysis of heart rate variability. J. Int. Med. 242, 225-229 (1997).
-
(1997)
J. Int. Med.
, vol.242
, pp. 225-229
-
-
Suhr, O.B.1
Wiklund, U.2
Ando, Y.3
Olofsson, B.-O.4
-
29
-
-
0033919415
-
The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation
-
Adams D, Samuel D, Goulon-Goeau C et al. The course and prognostic factors of familial amyloid polyneuropathy after liver transplantation. Brain 123, 1495-1504 (2000). Describes therapeutic effects of liver transplantations for familial amyloid polyneuropathy patients by analyzing many parameters and also proposes the indication for liver transplantation in patients with this disease.
-
(2000)
Brain
, vol.123
, pp. 1495-1504
-
-
Adams, D.1
Samuel, D.2
Goulon-Goeau, C.3
-
30
-
-
0035091384
-
Early liver transplantation is essential for familial amyloidotic polyneuropathy patients' quality of life
-
Jonsén E, Suhr OB, Tashima K, Athlin E. Early liver transplantation is essential for familial amyloidotic polyneuropathy patients' quality of life. Amyloid: J. Protein Folding Disord 8, 52-57 (2001).
-
(2001)
Amyloid: J. Protein Folding Disord.
, vol.8
, pp. 52-57
-
-
Jonsén, E.1
Suhr, O.B.2
Tashima, K.3
Athlin, E.4
-
31
-
-
0029159786
-
A case of familial amyloid polyneuroapthy treated with partial liver transplantation using a graft from a living related donor
-
Matsunami H, Makuuchi M, Kawasaki S et al. A case of familial amyloid polyneuroapthy treated with partial liver transplantation using a graft from a living related donor. Transplantation 60, 301-303 (1995).
-
(1995)
Transplantation
, vol.60
, pp. 301-303
-
-
Matsunami, H.1
Makuuchi, M.2
Kawasaki, S.3
-
32
-
-
0002489203
-
Partial liver transplantation from living donors in familial amyloid polyneuropathy
-
Ikeda S, Takei Y, Yanagisawa N et al. Partial liver transplantation from living donors in familial amyloid polyneuropathy. Amyloid: Int. J. Exp. Clin. Invest. 4, 18-23 (1997).
-
(1997)
Amyloid: Int. J. Exp. Clin. Invest.
, vol.4
, pp. 18-23
-
-
Ikeda, S.1
Takei, Y.2
Yanagisawa, N.3
-
33
-
-
0037181095
-
Temporary auxiliary liver transplantation from a living donor to an adult recipient with familial amyloid polyneuropathy
-
Ikegami T, Kawasaki S, Ohno Y et al. Temporary auxiliary liver transplantation from a living donor to an adult recipient with familial amyloid polyneuropathy. Transplantion 73, 628-630 (2002).
-
(2002)
Transplantion
, vol.73
, pp. 628-630
-
-
Ikegami, T.1
Kawasaki, S.2
Ohno, Y.3
-
34
-
-
0032741714
-
Partial-liver transplantation to treat familial amyloid polyneuropathy: Follow-up of 11 patients
-
Takei Y, Ikeda S, Hashikura Y, Ikegami T, Kawasaki S. Partial-liver transplantation to treat familial amyloid polyneuropathy: follow-up of 11 patients. Ann. Intern. Med. 131, 592-595 (1999).
-
(1999)
Ann. Intern. Med.
, vol.131
, pp. 592-595
-
-
Takei, Y.1
Ikeda, S.2
Hashikura, Y.3
Ikegami, T.4
Kawasaki, S.5
-
35
-
-
0037367630
-
Peripheral nerve function in patients with familial amyloid polyneuropathy after liver transplantation
-
Kobayashi S, Morita H, Asawa T et al. Peripheral nerve function in patients with familial amyloid polyneuropathy after liver transplantation. Amyloid: J. Protein Folding Disord. 10, 17-24 (2003).
-
(2003)
Amyloid: J. Protein Folding Disord.
, vol.10
, pp. 17-24
-
-
Kobayashi, S.1
Morita, H.2
Asawa, T.3
-
36
-
-
0035287089
-
Recurrent cerebral embolism in a familial amyloid polyneuropathy patient who received partial liver transplantation from a living donor
-
Owa M, Takei Y, Hashikura Y, Kawasaki S, Koyama M, Ikeda S. Recurrent cerebral embolism in a familial amyloid polyneuropathy patient who received partial liver transplantation from a living donor. Intern. Med. 40, 259-264 (2001).
-
(2001)
Intern. Med.
, vol.40
, pp. 259-264
-
-
Owa, M.1
Takei, Y.2
Hashikura, Y.3
Kawasaki, S.4
Koyama, M.5
Ikeda, S.6
-
37
-
-
0036713015
-
Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type)
-
Suhr OB, Ericzon B-G, Friman S. Long-term follow-up of survival of liver transplant recipients with familial amyloid polyneuropathy (Portuguese type). Liver Transpl. 8, 787-794 (2002).
-
(2002)
Liver Transpl.
, vol.8
, pp. 787-794
-
-
Suhr, O.B.1
Ericzon, B.-G.2
Friman, S.3
-
38
-
-
0001030180
-
De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation
-
Ando Y, Ando E, Tanaka Y et al. De novo amyloid synthesis in ocular tissue in familial amyloidotic polyneuropathy after liver transplantation. Transplantation 82, 1097-1098 (1996).
-
(1996)
Transplantation
, vol.82
, pp. 1097-1098
-
-
Ando, Y.1
Ando, E.2
Tanaka, Y.3
-
39
-
-
0033638822
-
Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: Ocular synthesis of mutant transthyretin
-
Munar-Qués M, Salva-Ladaria L, Mulet-Perera P, Sole M, Lopez-Andreu FR, Saraiva MJM. Vitreous amyloidosis after liver transplantation in patients with familial amyloid polyneuropathy: ocular synthesis of mutant transthyretin. Amyloid: Int. J. Exp. Clin. Invest. 7, 266-269 (2000).
-
(2000)
Amyloid: Int. J. Exp. Clin. Invest.
, vol.7
, pp. 266-269
-
-
Munar-Qués, M.1
Salva-Ladaria, L.2
Mulet-Perera, P.3
Sole, M.4
Lopez-Andreu, F.R.5
Saraiva, M.J.M.6
-
40
-
-
12244309069
-
Presence of variant transthyretin in aqueous humor of a patient with familial amyloidotic polyneuropathy after liver transplantation
-
Haraoka K, Ando Y, Ando E et al. Presence of variant transthyretin in aqueous humor of a patient with familial amyloidotic polyneuropathy after liver transplantation. Amyloid: J. Protein Folding Disord. 9, 247-251 (2002).
-
(2002)
Amyloid: J. Protein Folding Disord.
, vol.9
, pp. 247-251
-
-
Haraoka, K.1
Ando, Y.2
Ando, E.3
-
41
-
-
0030805834
-
Progression of ventricular wall thickening after liver transplantation for familial amyloidosis
-
Dubrey SW, Davidoff R, Skinner M, Bergethon P, Lewis D, Falk RH. Progression of ventricular wall thickening after liver transplantation for familial amyloidosis. Transplantation 64, 74-80 (1997).
-
(1997)
Transplantation
, vol.64
, pp. 74-80
-
-
Dubrey, S.W.1
Davidoff, R.2
Skinner, M.3
Bergethon, P.4
Lewis, D.5
Falk, R.H.6
-
42
-
-
0032558120
-
Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy
-
Stangou AJ, Hawkins PN, Heaton ND et al. Progressive cardiac amyloidosis following liver transplantation for familial amyloid polyneuropathy. Transplantation 66, 229-233 (1998).
-
(1998)
Transplantation
, vol.66
, pp. 229-233
-
-
Stangou, A.J.1
Hawkins, P.N.2
Heaton, N.D.3
-
43
-
-
0037087692
-
Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type
-
Olofsson B-O, Backman C, Karp K, Suhr OB. Progression of cardiomyopathy after liver transplantation in patients with familial amyloidotic polyneuropathy, Portuguese type. Transplantation 73, 745-751 (2002).
-
(2002)
Transplantation
, vol.73
, pp. 745-751
-
-
Olofsson, B.-O.1
Backman, C.2
Karp, K.3
Suhr, O.B.4
-
44
-
-
0025278448
-
Fibril in senile systemic amyloidosis is derived from normal transthyretin
-
Westermark P, Sletten K, Johansson B, Cornwell GG. Fibril in senile systemic amyloidosis is derived from normal transthyretin. Proc. Natl. Acad. Sci. USA 87, 2843-2845 (1990).
-
(1990)
Proc. Natl. Acad. Sci. USA
, vol.87
, pp. 2843-2845
-
-
Westermark, P.1
Sletten, K.2
Johansson, B.3
Cornwell, G.G.4
-
45
-
-
0034637031
-
Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild type transthyretin
-
Yazaki M, Tokuda T, Nakamura A et al. Cardiac amyloid in patients with familial amyloid polyneuropathy consists of abundant wild type transthyretin. Biochem. Biophys. Res. Commun. 274, 702-706 (2000).
-
(2000)
Biochem. Biophys. Res. Commun.
, vol.274
, pp. 702-706
-
-
Yazaki, M.1
Tokuda, T.2
Nakamura, A.3
-
46
-
-
0001034416
-
Urea cycle enzymes
-
Scriver CR, Beaudet AL, Sly WS, Valle D (Eds). McGraw-Hill, NY, USA
-
Brusilow SW, Horwich AL. Urea cycle enzymes. In: The Metabolic and Molecular Bases of Inherited Disease, 7th Edition. Scriver CR, Beaudet AL, Sly WS, Valle D (Eds). McGraw-Hill, NY, USA, 1187-1232 (1995).
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edition
, pp. 1187-1232
-
-
Brusilow, S.W.1
Horwich, A.L.2
-
47
-
-
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 (1987a).
-
(1987)
Rev. Physiol. Biochem. Pharmacol.
, vol.108
, pp. 21-68
-
-
Saheki, T.1
Kobayashi, K.2
Inoue, I.3
-
48
-
-
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). First report that describes the detailed clinical pictures and therapeutic effect of liver transplantation in type II (adult onset) citrullinemia.
-
(2001)
J. Neurol. Neurosurg. Psychiatry
, vol.71
, pp. 663-670
-
-
Ikeda, S.1
Yazaki, M.2
Takei, Y.3
-
49
-
-
0001454209
-
An autopsied case of the 'pseudoulegyria type' of the hepatocerebral disease
-
In Japanese
-
Shiraki H, Yamamoto T, Yamada K, Shikata T. An autopsied case of the 'pseudoulegyria type' of the hepatocerebral disease. Seishinshinkeishi 64, 305-318 (1962). (In Japanese)
-
(1962)
Seishinshinkeishi
, vol.64
, pp. 305-318
-
-
Shiraki, H.1
Yamamoto, T.2
Yamada, K.3
Shikata, T.4
-
50
-
-
0003049239
-
Ein Beitrag zu den klinischen und histopathologischen Problemen uber die hepatozerebralen Erkrankungen, isbesondere uber den 'Pseudoulegyrie Typ'
-
In Japanese
-
Oda M. Ein Beitrag zu den klinischen und histopathologischen Problemen uber die hepatozerebralen Erkrankungen, isbesondere uber den 'Pseudoulegyrie Typ'. Seishinshinkeishi 65, 892-931 (1964). (In Japanese)
-
(1964)
Seishinshinkeishi
, vol.65
, pp. 892-931
-
-
Oda, M.1
-
51
-
-
0014989539
-
Pseudoulegyric type of hepatocerebral disease
-
In Japanese
-
Shiraki H, Oda M. Pseudoulegyric type of hepatocerebral disease. Naika 28, 491-498 (1971). (In Japanese)
-
(1971)
Naika
, vol.28
, pp. 491-498
-
-
Shiraki, H.1
Oda, M.2
-
52
-
-
0017036179
-
Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia
-
Tsuji T, Morita T, Matsuyama Y, Matsui T, Tamura M, Matsuoka Y. Sibling cases of chronic recurrent hepatocerebral disease with hypercitrullinemia. Gastroenterologia Japonica 11, 328-340 (1976).
-
(1976)
Gastroenterologia Japonica
, vol.11
, pp. 328-340
-
-
Tsuji, T.1
Morita, T.2
Matsuyama, Y.3
Matsui, T.4
Tamura, M.5
Matsuoka, Y.6
-
53
-
-
0019471444
-
Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia
-
Saheki T, Ueda A, Hosoya M et al. Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin. Chim. Acta. 109, 325-335 (1981).
-
(1981)
Clin. Chim. Acta.
, vol.109
, pp. 325-335
-
-
Saheki, T.1
Ueda, A.2
Hosoya, M.3
-
54
-
-
0020349486
-
Enzymatic analysis of citrullinemia (12 cases) in Japan
-
Saheki T, Ueda A, Hosoya M, Sase M, Nakano K, Katsunuma T. Enzymatic analysis of citrullinemia (12 cases) in Japan. Adv. Exp. Med. Biol. 153, 63-76 (1982).
-
(1982)
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
-
55
-
-
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
-
56
-
-
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
-
57
-
-
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). J. Hum. Genet. 47, 333-341 (2002).
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 333-341
-
-
Saheki, T.1
Kobayashi, K.2
-
58
-
-
0025335712
-
Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia
-
Kobayashi K, Jackson MJ, Tick DB, O'Brien WE, Beaudet AL. Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. J. Biol. Chem. 265, 11361-11367 (1990).
-
(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
-
59
-
-
0028019772
-
Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia
-
Kobayashi K, Shaheen N, Terazono H, Saheki T. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Am. J. Hum. Genet. 55, 1103-1112 (1994).
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 1103-1112
-
-
Kobayashi, K.1
Shaheen, N.2
Terazono, H.3
Saheki, T.4
-
60
-
-
0027429389
-
A search for the primary abnormality in adult-onset type II citrullinemia
-
Kobayashi K, Shaheen N, Kumashiro R et al. A search for the primary abnormality in adult-onset type II citrullinemia. Am. J. Hum. Genet. 53, 1024-1030 (1993).
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 1024-1030
-
-
Kobayashi, K.1
Shaheen, N.2
Kumashiro, R.3
-
61
-
-
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. Nature Genet. 22, 159-163 (1999).
-
(1999)
Nature Genet.
, vol.22
, pp. 159-163
-
-
Kobayashi, K.1
Sinasac, D.S.2
Iijima, M.3
-
62
-
-
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
-
63
-
-
17944378173
-
2+-stimulated aspartate/glutamate transporters in mitochondria
-
2+-stimulated aspartate/glutamate transporters in mitochondria. EMBO J. 20, 5060-5069 (2001).
-
(2001)
EMBO J.
, vol.20
, pp. 5060-5069
-
-
Palmieri, L.1
Pardo, B.2
Lasorsa, F.M.3
-
64
-
-
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
-
65
-
-
0034329775
-
3 level in a case of sudden onset and rapidly progressive case of type II citrullineimia
-
3 level in a case of sudden onset and rapidly progressive case of type II citrullineimia. Internal. Med. 39, 925-929 (2000).
-
(2000)
Internal. Med.
, vol.39
, pp. 925-929
-
-
Ishikawa, F.1
Nakamuta, M.2
Kato, M.3
-
66
-
-
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, 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, The Netherlands, 565-587 (2000).
-
(2000)
Calcium: The Molecular Basis of Calcium Action in Biology and Medicine
, pp. 565-587
-
-
Kobayashi, K.1
Iijima, M.2
Yasuda, T.3
-
67
-
-
0038217975
-
Effectiveness of carbohydrate-restricted diet and arginine granules therapy for adult-onset type II citrullinemia: A case report of siblings showing homozygous SLC 25A13 mutation with and without the disease
-
Imamura Y, Kobayashi K, Shibatou T et al. 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).
-
(2003)
Hepatol. Res.
, vol.26
, pp. 68-72
-
-
Imamura, Y.1
Kobayashi, K.2
Shibatou, T.3
-
68
-
-
0034531004
-
Hepatocellular carcinoma associated with adult-type citrullinemia
-
Ito T, Shiraki K, Sekoguchi K et al. Hepatocellular carcinoma associated with adult-type citrullinemia. Digest. Dis. Sci. 45, 2203-2206 (2000).
-
(2000)
Digest. Dis. Sci.
, vol.45
, pp. 2203-2206
-
-
Ito, T.1
Shiraki, K.2
Sekoguchi, K.3
-
69
-
-
0023511557
-
Molecular basis of enzyme abnormalities in urea cycle disorders: With special reference to citrullinemia and argininosuccinic aciduria
-
Saheki T, Kobayashi K, Ichiki H et al. Molecular basis of enzyme abnormalities in urea cycle disorders: with special reference to citrullinemia and argininosuccinic aciduria. Enzyme 38, 227-232 (1987b).
-
(1987)
Enzyme
, vol.38
, pp. 227-232
-
-
Saheki, T.1
Kobayashi, K.2
Ichiki, H.3
-
70
-
-
0029083831
-
Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia
-
Kobayashi T, Nakata M, Terazono H, Shinsato T, Saheki T. Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult-onset type II citrullinemia. FEBS Lett. 372, 69-73 (1995).
-
(1995)
FEBS Lett.
, vol.372
, pp. 69-73
-
-
Kobayashi, T.1
Nakata, M.2
Terazono, H.3
Shinsato, T.4
Saheki, T.5
-
71
-
-
0030904811
-
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
-
Kobayashi K, Horiuchi M, Saheki T. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia. Hepatology. 25, 1160-1165 (1997).
-
(1997)
Hepatology
, vol.25
, pp. 1160-1165
-
-
Kobayashi, K.1
Horiuchi, M.2
Saheki, T.3
-
72
-
-
0024425235
-
Liver transplantation for ornithine transcarbamylase deficiency in a girl
-
Largilliere C, Houssin D, Gottrand F et al. Liver transplantation for ornithine transcarbamylase deficiency in a girl. Paediatrics 115, 415-417 (1989).
-
(1989)
Paediatrics
, vol.115
, pp. 415-417
-
-
Largilliere, C.1
Houssin, D.2
Gottrand, F.3
-
73
-
-
0026452080
-
Orthotopic liver transplantation in liver-based metabolic disorders
-
Mowat AP. Orthotopic liver transplantation in liver-based metabolic disorders. Eur. J. Pediatr. 151(Suppl. 1) S32-S38 (1992).
-
(1992)
Eur. J. Pediatr.
, vol.151
, Issue.SUPPL. 1
-
-
Mowat, A.P.1
-
74
-
-
0028344586
-
Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: Report of three cases
-
Jan D, Poggi F, Jouvet P et al. Definitive cure of hyperammonemia by liver transplantation in urea cycle defects: report of three cases. Transplant Proc. 26, 188 (1994).
-
(1994)
Transplant Proc.
, vol.26
, pp. 188
-
-
Jan, D.1
Poggi, F.2
Jouvet, P.3
-
75
-
-
0032732091
-
Liver transplantation in urea cycle disorders
-
Saudubray JM, Touati G, Delonlay P et al. Liver transplantation in urea cycle disorders. Eur. J. Pediatr. 158(Suppl. 2), S55-S59 (1999).
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
Saudubray, J.M.1
Touati, G.2
Delonlay, P.3
-
76
-
-
0026597705
-
Orthotopic liver transplantation for urea cycle enzyme deficiency
-
Todo S, Starzl TE, Tzakis A et al. Orthotopic liver transplantation for urea cycle enzyme deficiency. Hepatology 15, 419-422 (1992).
-
(1992)
Hepatology
, vol.15
, pp. 419-422
-
-
Todo, S.1
Starzl, T.E.2
Tzakis, A.3
-
77
-
-
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, 1679-1681 (1996).
-
(1996)
Transplantation
, vol.62
, pp. 1679-1681
-
-
Yazaki, M.1
Ikeda, S.2
Takei, Y.3
-
78
-
-
9844264271
-
Orthotopic liver transplantation for adult-onset type II citrullinemia
-
Kawamoto S, Strong RW, Kerlin P et al. Orthotopic liver transplantation for adult-onset type II citrullinemia. Clin. Transplantation 11, 453-458 (1997).
-
(1997)
Clin. Transplantation
, vol.11
, pp. 453-458
-
-
Kawamoto, S.1
Strong, R.W.2
Kerlin, P.3
-
79
-
-
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
|