-
1
-
-
84886098199
-
Citrin deficiency
-
Pagon RA, Bird TC, Dolan CR, et al, eds, Seattle, WA: University of Washington
-
Kobayashi K, Saheki T. Citrin deficiency. In: Pagon RA, Bird TC, Dolan CR, et al, eds. Gene Reviews-NCBI Bookshelf. Seattle, WA: University of Washington; 1993-2009 http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene.
-
(1993)
Gene Reviews-NCBI Bookshelf
-
-
Kobayashi, K.1
Saheki, T.2
-
2
-
-
33947123048
-
Citrin deficiency: A novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet
-
Dimmock D, Kobayashi K, Iijima M, et al. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics 2007;119: e773-7.
-
(2007)
Pediatrics
, vol.119
-
-
Dimmock, D.1
Kobayashi, K.2
Iijima, M.3
-
3
-
-
77953167325
-
Nonalcholic fatty liver disease in two siblings with adult-onset type II citrullinemia
-
Lee BH, Jin HY, Kim GH, Choi JH, Yoo HW. Nonalcholic fatty liver disease in two siblings with adult-onset type II citrullinemia. J Pediatr Gastroenterol Nutr 2010;50:682-5.
-
(2010)
J. Pediatr. Gastroenterol. Nutr.
, vol.50
, pp. 682-685
-
-
Lee, B.H.1
Jin, H.Y.2
Kim, G.H.3
Choi, J.H.4
Yoo, H.W.5
-
4
-
-
33947664940
-
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
-
Ohura T, Kobayashi K, Tazawa Y, et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis 2007;30:139-44.
-
(2007)
J. Inherit Metab. Dis.
, vol.30
, pp. 139-144
-
-
Ohura, T.1
Kobayashi, K.2
Tazawa, Y.3
-
5
-
-
56049093028
-
Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency
-
Chen HW, Chen HL, Ni YH, et al. Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency. J Pediatr Gastroenterol Nutr 2008;47:187-92.
-
(2008)
J. Pediatr. Gastroenterol. Nutr.
, vol.47
, pp. 187-192
-
-
Chen, H.W.1
Chen, H.L.2
Ni, Y.H.3
-
6
-
-
10344225384
-
Guideline for the evaluation of cholestatic jaundice in infants: Recommendations of the North American society for pediatric gastroenterology, hepatology and nutrition
-
Moyer V, Freese DK, Whitington PF, et al. Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2004;39:115-28.
-
(2004)
J. Pediatr. Gastroenterol. Nutr.
, vol.39
, pp. 115-128
-
-
Moyer, V.1
Freese, D.K.2
Whitington, P.F.3
-
8
-
-
77953129817
-
Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor
-
April 3. Epub ahead of print
-
Shigeta T, Kasahara M, Kimura T, et al. Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor. Pediatr Transplant. 2009 April 3. [Epub ahead of print]
-
(2009)
Pediatr. Transplant
-
-
Shigeta, T.1
Kasahara, M.2
Kimura, T.3
-
9
-
-
53249111691
-
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
-
Komatsu M, Yazaki M, Tanaka N, et al. Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. J Hepatol 2008;49:810-20.
-
(2008)
J. Hepatol.
, vol.49
, pp. 810-820
-
-
Komatsu, M.1
Yazaki, M.2
Tanaka, N.3
-
10
-
-
45849089154
-
Reduced carbohydrate intake in citrin-deficient subjects
-
Saheki T, Kobayashi K, Terashi M, et al. Reduced carbohydrate intake in citrin-deficient subjects. J Inherit Metab Dis 2008;31:386-94.
-
(2008)
J. Inherit Metab. Dis.
, vol.31
, pp. 386-394
-
-
Saheki, T.1
Kobayashi, K.2
Terashi, M.3
-
11
-
-
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 2002;47:333-41.
-
(2002)
J. Hum. Genet.
, vol.47
, pp. 333-341
-
-
Saheki, T.1
Kobayashi, K.2
-
12
-
-
38549148724
-
NASH may be trash
-
Cassiman D, Jaeken J. NASH may be trash. Gut 2008;57:141-4.
-
(2008)
Gut
, vol.57
, pp. 141-144
-
-
Cassiman, D.1
Jaeken, J.2
-
13
-
-
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 2001;138:741-3.
-
(2001)
J. Pediatr.
, vol.138
, pp. 741-743
-
-
Tomomasa, T.1
Kobayashi, K.2
Kaneko, H.3
|