Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients-Reference-Cited by-同舟云学术

Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients

Published:2004-11 Issue:3 Volume:83 Page:213-219
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tazawa Yusaku,Kobayashi Keiko,Abukawa Daiki,Nagata Ikuo,Maisawa Shunichi,Sumazaki Ryo,Iizuka Toshiyuki,Hosoda Yoshito,Okamoto Manabu,Murakami Jun,Kaji Shunsaku,Tabata Ayako,Lu Yao Bang,Sakamoto Osamu,Matsui Akira,Kanzaki Susumu,Takada Goro,Saheki Takeyori,Iinuma Kazuie,Ohura Toshihiro

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference24 articles.

1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat. Genet.,1999

2. Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria;Palmieri;EMBO J.,2001

3. Hereditary disorders of the urea cycle in man: biochemical and molecular approaches;Saheki;Rev. Physiol. Biochem. Pharmacol.,1987

4. A search for the primary abnormality in adult-onset type II citrullinemia;Kobayashi;Am. J. Hum. Genet.,1993

5. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type II citrullinemia;Kobayashi;Hepatology,1997

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