-
1
-
-
23944517760
-
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
-
DOI 10.1007/s10038-005-0262-8
-
Lu YB, Kobayashi K, Ushikai M, Tabata A, Iijima M, Li MX, et al. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency [J]. J Hum Genet, 2005, 50 (7) : 338-346. (Pubitemid 41206925)
-
(2005)
Journal of Human Genetics
, vol.50
, Issue.7
, pp. 338-346
-
-
Lu, Y.B.1
Kobayashi, K.2
Ushikai, M.3
Tabata, A.4
Iijima, M.5
Li, M.X.6
Lei, L.7
Kawabe, K.8
Taura, S.9
Yang, Y.10
Liu, T.-T.11
Chiang, S.-H.12
Hsiao, K.-J.13
Lau, Y.-L.14
Tsui, L.-C.15
Lee, D.H.16
Saheki, T.17
-
2
-
-
79955856563
-
-
Chinese source
-
-
-
-
3
-
-
17744397286
-
Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia
-
DOI 10.1007/s004390000430
-
Yasuda T, Yamaguchi N, Kobayashi K, Nishi I, Horinouchi H, Jalil MA, 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 [J]. Hum Genet, 2000, 107 (6) : 537-545. (Pubitemid 32010954)
-
(2000)
Human Genetics
, vol.107
, Issue.6
, 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
-
4
-
-
33947664940
-
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
-
DOI 10.1007/s10545-007-0506-1
-
Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) [J]. J Inherit Metab Dis, 2007, 30 (2) : 139-144. (Pubitemid 46487993)
-
(2007)
Journal of Inherited Metabolic Disease
, vol.30
, Issue.2
, pp. 139-144
-
-
Ohura, T.1
Kobayashi, K.2
Tazawa, Y.3
Abukawa, D.4
Sakamoto, O.5
Tsuchiya, S.6
Saheki, T.7
-
5
-
-
44449175969
-
Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency
-
J
-
Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, et al. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency [J]. J Hum Genet, 2008, 53 (6) : 534-545.
-
(2008)
J Hum Genet
, vol.53
, Issue.6
, pp. 534-545
-
-
Tabata, A.1
Sheng, J.S.2
Ushikai, M.3
Song, Y.Z.4
Gao, H.Z.5
Lu, Y.B.6
-
6
-
-
0033400205
-
Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue
-
J
-
Sinasac DS, Crackower MA, Lee JR, Kobayashi K, Saheki T, Scherer SW, et al. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue [J]. Genomics, 1999, 62 (2) : 289-292.
-
(1999)
Genomics
, vol.62
, Issue.2
, 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
-
7
-
-
0033037729
-
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
-
DOI 10.1038/9667
-
Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein [J]. Nat Genet, 1999, 22 (2) : 159-163. (Pubitemid 29264809)
-
(1999)
Nature Genetics
, vol.22
, Issue.2
, 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
-
8
-
-
0035099306
-
Neonatal presentation of adult-onset type II citrullinemia
-
J
-
Ohura T, Kobayashi K, Tazawa Y, Nishi I, Abukawa D, Sakamoto O, et al. Neonatal presentation of adult-onset type II citrullinemia [J]. Hum Genet, 2001, 108 (2) : 87-90.
-
(2001)
Hum Genet
, vol.108
, Issue.2
, pp. 87-90
-
-
Ohura, T.1
Kobayashi, K.2
Tazawa, Y.3
Nishi, I.4
Abukawa, D.5
Sakamoto, O.6
-
9
-
-
0035023473
-
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
-
DOI 10.1067/mpd.2001.113264
-
Tazawa Y, Kobayashi K, Ohura T, Abukawa D, Nishinomiya F, Hosoda Y, et al. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia [J]. J Pediatr, 2001, 138 (5) : 735-740. (Pubitemid 32417677)
-
(2001)
Journal of Pediatrics
, vol.138
, Issue.5
, 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
-
10
-
-
0035005987
-
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
-
DOI 10.1067/mpd.2001.113361
-
Tomomasa T, Kobayashi K, Kaneko H, Shimura H, Fukusato T, Tabata M, et al. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy [J]. J Pediatr, 2001, 138 (5) : 741-743. (Pubitemid 32417678)
-
(2001)
Journal of Pediatrics
, vol.138
, Issue.5
, 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
-
11
-
-
57449098390
-
Citrin deficiency, a perplexing global disorder
-
J
-
Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, et al. Citrin deficiency, a perplexing global disorder [J]. Mol Genet Metab, 2009, 96 (1) : 44-49.
-
(2009)
Mol Genet Metab
, vol.96
, Issue.1
, pp. 44-49
-
-
Dimmock, D.1
Maranda, B.2
Dionisi-Vici, C.3
Wang, J.4
Kleppe, S.5
Fiermonte, G.6
-
12
-
-
79955874012
-
-
Chinese source
-
-
-
-
13
-
-
79955868280
-
-
Chinese source
-
-
-
-
14
-
-
79955822689
-
-
Chinese source
-
-
-
-
15
-
-
65749087118
-
Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China
-
J
-
Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China [J]. Dig Liver Dis, 2009, 41 (9) : 683-689.
-
(2009)
Dig Liver Dis
, vol.41
, Issue.9
, pp. 683-689
-
-
Song, Y.Z.1
Li, B.X.2
Chen, F.P.3
Liu, S.R.4
Sheng, J.S.5
Ushikai, M.6
-
16
-
-
0036431028
-
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids
-
J
-
Ben-Shalom E, Kobayashi K, Shaag A, Yasuda T, Gao HZ, Saheki T, et al. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids [J]. Mol Genet Metab, 2002, 77 (3) : 202-208.
-
(2002)
Mol Genet Metab
, vol.77
, Issue.3
, pp. 202-208
-
-
Ben-Shalom, E.1
Kobayashi, K.2
Shaag, A.3
Yasuda, T.4
Gao, H.Z.5
Saheki, T.6
-
17
-
-
47549119057
-
Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions
-
DOI 10.1373/clinchem.2008.103721
-
Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, et al. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions [J]. Clin Chem, 2008, 54 (7) : 1141-1148. (Pubitemid 352009690)
-
(2008)
Clinical Chemistry
, vol.54
, Issue.7
, pp. 1141-1148
-
-
Wong, L.-J.C.1
Dimmock, D.2
Geraghty, M.T.3
Quan, R.4
Lichter-Konecki, U.5
Wang, J.6
Brundage, E.K.7
Scaglia, F.8
Chinault, A.C.9
-
18
-
-
79955790160
-
-
Chinese source
-
-
-
-
19
-
-
79955875842
-
-
Chinese source
-
-
-
|