Results 141 to 150 of about 451,717 (162)

Improved diagnosis of citrin deficiency by newborn screening using a molecular second-tier test

Molecular Genetics and Metabolism, 2022
Wuh-liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee   +2 more
exaly  

Citrin deficiency

2003
T. Saheki, K. Kobayashi, M. Iijima, M. A. Mil, L. Begum, M. X. Li, I. Nishi, T. Yasuda, N. Yamaguchi, H. Z. Gao, Y. B. Lu, M. Horiuchi   +11 more
openaire   +1 more source

Citrin deficiency: Early severe cases in a European country

Clinics and Research in Hepatology and Gastroenterology, 2021
Lorena Fernández Tomé, Luiz Guilherme Stark Aroeira, Gema Muñoz Bartolo, Angela de la Vega Bueno, Carmen Camarena Grande, Esteban Frauca Remacha, Dolores Lledín Barbancho, María Alós Díez, María José Quiles Blanco, Laura Guerra, Manuel López Santamaría, Loreto Hierro Llanillo   +11 more
openaire   +2 more sources

Pathophysiology of citrin deficiency

2007
T. Saheki, K. Kobayashi, M. Iijima, M. X. Li, M. Horiuchi, A. Tabata, Y. B. Lu, M. Ushikai, M. Terashi, M. Moriyama   +9 more
openaire   +1 more source

Disorder: Citrullinemia and citrin deficiency

2020
Patricia Jones, Khushbu Patel, Dinesh Rakheja   +2 more
openaire   +1 more source

Citrin deficiency presenting with ketotic hypoglycaemia and hepatomegaly in childhood

European Journal of Pediatrics, 2004
Momoko, Hachisu, Yoichiro, Oda, Masahiro, Goto, Keiko, Kobayashi, Takeyori, Saheki, Toshihiro, Ohura, Seiji, Noma, Sachiko, Kitanaka   +7 more
openaire   +2 more sources

Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease

Journal of Hepatology, 2008
Masahide Yazaki, Takeyori Saheki, Naoki Tanaka   +2 more
exaly  

A GC/MS-based metabolomic approach for diagnosing citrin deficiency

Analytical and Bioanalytical Chemistry, 2011
Tomiko Kuhara, Morimasa Ohse
exaly  

Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle

Molecular Genetics and Metabolism, 2004
Kwang-Jen Hsiao, Meng Xian Li, Mikio Iijima   +2 more
exaly  

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in

Molecular Genetics and Metabolism, 2012
Osamu Sakamoto, Takeyori Saheki
exaly