A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency

Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria

Luigi Palmieri, Beatriz Pardo, Francesco M. Lasorsa et al. · The EMBO Journal · 2001 · 509 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 414 citations

Life Sciences, Genetics, Molecular Genetics +8

Neonatal presentation of adult-onset type II citrullinemia

Toshihiro Ohura, Keiko Kobayashi, Yusaku Tazawa et al. · Human Genetics · 2001 · 131 citations

Medicine, Neurology, Pediatrics +9

Infantile cholestatic jaundice associated with adult-onset type II citrullinemia

Yusaku Tazawa, Keiko Kobayashi, Toshihiro Ohura et al. · The Journal of Pediatrics · 2001 · 116 citations

Medicine, Internal Medicine, Pathology +12

Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation

Akiko Tamamori, Yoshiyuki Okano, Hajime Ozaki et al. · European Journal of Pediatrics · 2002 · 107 citations

Medicine, Pathobiology, Pediatrics +16