Keiko Kobayashi
Saku University(JP)Mito Red Cross Hospital(JP)Daicel (Japan)(JP)National Cancer Center Hospital East(JP)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Neonatal Health and Biochemistry, Mitochondrial Function and Pathology, Pediatric Hepatobiliary Diseases and Treatments, Amino Acid Enzymes and Metabolism
Most-Cited Works
- → The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein(1999)411 cited
- → Reduced N-Acetylaspartate Levels in Mice Lacking Aralar, a Brain- and Muscle-type Mitochondrial Aspartate-glutamate Carrier(2005)164 cited
- → Developmental changes in the Ca2+-regulated mitochondrial aspartate–glutamate carrier aralar1 in brain and prominent expression in the spinal cord(2003)146 cited
- → Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia(2000)133 cited
- → Neonatal presentation of adult-onset type II citrullinemia(2001)131 cited
- → Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency(2008)130 cited