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

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

Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan

Yosuke Shigematsu, Satoko Hirano, Ikue Hata et al. · Journal of Chromatography B · 2002 · 143 citations

Pharmacy, Biochemistry, Pharmaceutical Analysis +15

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi et al. · Human Genetics · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +9

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