Azusa Kobayashi

Summary

Affiliation: Kanazawa Medical University
Country: Japan

Publications

  1. ncbi 14C-propionate incorporation assay by rapid filtration in multiwell plates
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    Clin Chim Acta 343:209-12. 2004
  2. ncbi A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    J Pediatr 147:552-4. 2005
  3. ncbi Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Pediatr Int 48:631-3. 2006
  4. ncbi An inherited disorder characterized by repeated episodes of bilateral ballism: a case report
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Mov Disord 22:2110-2. 2007
  5. doi Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Am J Med Genet B Neuropsychiatr Genet 147:973-5. 2008
  6. doi Copy-number variations associated with autism spectrum disorder
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Uchinada, Kahoku gun, Ishikawa 920 293, Japan
    Pharmacogenomics 9:1143-54. 2008
  7. ncbi A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene
    Takuya Akai
    Department of Neurosurgery, Kanazawa Medical University, 1 1 Daigaku, Uchinda, Kahokugun, Ishikawa 920 0293, Japan
    Pediatr Neurosurg 37:97-9. 2002
  8. ncbi Three novel and six common mutations in 11 patients with methylmalonic acidemia
    Azusa Kobayashi
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Pediatr Int 48:1-4. 2006
  9. ncbi Apoptosis in young rats with adriamycin-induced cardiomyopathy--comparison with pirarubicin, a new anthracycline derivative
    Eikan Koh
    Department of Pediatrics, Kanazawa Medical University, Kanazawa, 920 0293, Japan
    Pediatr Res 51:256-9. 2002

Collaborators

  • Eikan Koh
  • T Akai
  • Hiroaki Kakinuma
  • Hiroaki Takahashi
  • Hitoshi Sato
  • Tsuneyuki Nakamura
  • Masatsune Itoh
  • Mamoru Ozaki
  • Ariyuki Hori
  • Takuma Fujiki

Detail Information

Publications9

  1. ncbi 14C-propionate incorporation assay by rapid filtration in multiwell plates
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    Clin Chim Acta 343:209-12. 2004
    ..Unfortunately, there has been no rapid and reliable method for the evaluation of cobalamin dependency...
  2. ncbi A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Daigaku, Uchinada, Ishikawa 920 0293, Japan
    J Pediatr 147:552-4. 2005
    ..Imaging showed a high T2 lesion in the left putamen at age 3 and a right putamen lesion at age 6. Cerebrospinal fluid free thyroxine concentrations were low, with normal 3,3',5-triiodothyronine concentrations...
  3. ncbi Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Pediatr Int 48:631-3. 2006
  4. ncbi An inherited disorder characterized by repeated episodes of bilateral ballism: a case report
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Mov Disord 22:2110-2. 2007
    ..This is the first report of an inherited disorder characterized by repeated episodes of violent movements...
  5. doi Variation in GABA-A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Am J Med Genet B Neuropsychiatr Genet 147:973-5. 2008
    ..This suggests that aberrant copy number of the GABA-A receptor subunit genes may contribute to the etiology of autism in this patient...
  6. doi Copy-number variations associated with autism spectrum disorder
    Hiroaki Kakinuma
    Department of Pediatrics, Kanazawa Medical University, 1 1 Uchinada, Kahoku gun, Ishikawa 920 293, Japan
    Pharmacogenomics 9:1143-54. 2008
    ..These data will provide us with an opportunity not only to search for genes causing or contributing to ASDs but also to understand the genetics of ASD...
  7. ncbi A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene
    Takuya Akai
    Department of Neurosurgery, Kanazawa Medical University, 1 1 Daigaku, Uchinda, Kahokugun, Ishikawa 920 0293, Japan
    Pediatr Neurosurg 37:97-9. 2002
    ..This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes...
  8. ncbi Three novel and six common mutations in 11 patients with methylmalonic acidemia
    Azusa Kobayashi
    Department of Pediatrics, Kanazawa Medical University, Ishikawa, Japan
    Pediatr Int 48:1-4. 2006
    ..Although most are private mutations, only three (E117X, G717V, and N219Y) are reportedly common in Japanese, Black, and Caucasian populations, respectively. Here we identified mutations in 11 Japanese patients with MCM deficiency...
  9. ncbi Apoptosis in young rats with adriamycin-induced cardiomyopathy--comparison with pirarubicin, a new anthracycline derivative
    Eikan Koh
    Department of Pediatrics, Kanazawa Medical University, Kanazawa, 920 0293, Japan
    Pediatr Res 51:256-9. 2002
    ..Thus, pirarubicin has a significantly lower chronic cardiotoxicity compared with ADR...