-
1
-
-
0021907023
-
Neonatal cholestasis
-
Balistreri WF (1985) Neonatal cholestasis. J Pediatr 106: 171-186.
-
(1985)
J Pediatr
, vol.106
, pp. 171-186
-
-
Balistreri, W.F.1
-
2
-
-
0036431028
-
Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids
-
Ben-Shalom E, Kobayashi K, Shaag A, et al (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
-
3
-
-
14644424661
-
Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood
-
Hachisu M, Oda Y, Goto M, et al (2005) Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood. Eur J Pediatr 164: 109-110.
-
(2005)
Eur J Pediatr
, vol.164
, pp. 109-110
-
-
Hachisu, M.1
Oda, Y.2
Goto, M.3
-
4
-
-
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, Kobayashi K, Shibatou T, et al (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
-
5
-
-
0027429389
-
A search for the primary abnormality in adult-onset type II citrullinemia
-
Kobayashi K, Shaheen N, Kumashiro R, et al (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
-
6
-
-
0030904811
-
Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia
-
Kobayashi K, Horiuchi M, Saheki T (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
-
7
-
-
0033037729
-
The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein
-
Kobayashi K, Sinasac DS, Iijima M, et al (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
-
8
-
-
0142185092
-
Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations
-
Kobayashi K, Lu YB, Li MX, et al (2003) Screening of nine SLC25A13 mutations: Their frequency in patients with citrin deficiency and high carrier rates in Asian populations. Mol Genet Metab 80: 356-359.
-
(2003)
Mol Genet Metab
, vol.80
, pp. 356-359
-
-
Kobayashi, K.1
Lu, Y.B.2
Li, M.X.3
-
9
-
-
0142168218
-
Citrullinaemia type II: A rare cause of neonatal hepatitis detected by newborn screening
-
Lee J, Ellaway C, Kobayashi K, Wilcken B (2002) Citrullinaemia type II: a rare cause of neonatal hepatitis detected by newborn screening. J Inherit Metab Dis 25 (Supplement 1): 29.
-
(2002)
J Inherit Metab Dis
, vol.25
, Issue.SUPPL. 1
, pp. 29
-
-
Lee, J.1
Ellaway, C.2
Kobayashi, K.3
Wilcken, B.4
-
10
-
-
23944517760
-
Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
-
Lu YB, Kobayashi K, Ushikai M, et al (2005) Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency. J Hum Genet 50: 338-346.
-
(2005)
J Hum Genet
, vol.50
, pp. 338-346
-
-
Lu, Y.B.1
Kobayashi, K.2
Ushikai, M.3
-
11
-
-
0036215646
-
Type II citrullinaemia (citrin deficiency) in a neonate with hypergalactosaemia detected by mass screening
-
Naito E, Ito I, Matsuura S, et al (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, I.2
Matsuura, S.3
-
12
-
-
0035099306
-
Neonatal presentation of adult-onset type II citrullinemia
-
Ohura T, Kobayashi K, Tazawa Y, et al (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
-
13
-
-
0038632034
-
A novel inborn error of metabolism detected by elevated methionine and/ or galactose in newborn screening: Neonatal intrahepatic cholestasis caused by citrin deficiency
-
Ohura T, Kobayashi K, Abukawa D, et al (2003) A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: Neonatal intrahepatic cholestasis caused by citrin deficiency. Eur J Pediatr 162: 317-322.
-
(2003)
Eur J Pediatr
, vol.162
, pp. 317-322
-
-
Ohura, T.1
Kobayashi, K.2
Abukawa, D.3
-
14
-
-
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
-
15
-
-
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 (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
-
16
-
-
0023076114
-
Hereditary disorders of the urea cycle in man: Biochemical and molecular approaches
-
Saheki T, Kobayashi K, Inoue I, et al (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
-
17
-
-
0037173957
-
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan
-
Shigematsu Y, Hirano S, Hata I, et al (2002) Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. J Chromatogr B 776: 39-48.
-
(2002)
J Chromatogr B
, vol.776
, pp. 39-48
-
-
Shigematsu, Y.1
Hirano, S.2
Hata, I.3
-
18
-
-
0036460375
-
Neonatal intrahepatic cholestasis caused by citrin deficiency: Severe hepatic dysfunction in an infant requiring liver transplantation
-
Tamamori A, Okano Y, Ozaki H (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
-
19
-
-
4644292957
-
Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency
-
Tamamori A, Fujimoto A, Okano Y, et al (2004) Effects of citrin deficiency in the perinatal period: Feasibility of newborn mass screening for citrin deficiency. Pediatr Res 56: 608-614.
-
(2004)
Pediatr Res
, vol.56
, pp. 608-614
-
-
Tamamori, A.1
Fujimoto, A.2
Okano, Y.3
-
20
-
-
0036821389
-
Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles
-
Tanaka T, Nagao M, Tsutsumi H, et al (2002) Application of mutation analysis for the previously uncertain cases of adult-onset type II citrullinemia (CTLN2) and their clinical profiles. Tohoku J Exp Med 198: 89-97.
-
(2002)
Tohoku J Exp Med
, vol.198
, pp. 89-97
-
-
Tanaka, T.1
Nagao, M.2
Tsutsumi, H.3
-
21
-
-
0035023473
-
Infantile cholestatic jaundice associated with adult-onset type II citrullinemia
-
Tazawa T, Kobayashi K, Ohura T, et al (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, T.1
Kobayashi, K.2
Ohura, T.3
-
22
-
-
8144223477
-
Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: Case reports from 16 patients
-
Tazawa Y, Kobayashi K, Abukawa D, et al (2004) Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: Case reports from 16 patients. Mol Genet Metab 83, 213-219.
-
(2004)
Mol Genet Metab
, vol.83
, pp. 213-219
-
-
Tazawa, Y.1
Kobayashi, K.2
Abukawa, D.3
-
23
-
-
0035005987
-
Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
-
Tomomasa T, Kobayashi K, Kaneko H, et al (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
-
24
-
-
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, Kobayashi K, Yasuda T, et al (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
-
25
-
-
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 (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, 537-45.
-
(2000)
Hum Genet
, vol.107
, pp. 537-545
-
-
Yasuda, T.1
Yamaguchi, N.2
Kobayashi, K.3
|