Journal of Genetics

, Volume 94, Issue 1, pp 147–150

Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

  • TOSHIAKI HITOMI
  • NORIO MATSUURA
  • YOSUKE SHIGEMATSU
  • YOSHIYUKI OKANO
  • ERI SHINOZAKI
  • MASAHIKO KAWAI
  • HATASU KOBAYASHI
  • KOUJI H. HARADA
  • AKIO KOIZUMI
RESEARCH NOTE

Keywords

newborn screening SLC22A5 gene systemic carnitine deficiency 

References

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Copyright information

© Indian Academy of Sciences 2015

Authors and Affiliations

  • TOSHIAKI HITOMI
    • 1
  • NORIO MATSUURA
    • 1
  • YOSUKE SHIGEMATSU
    • 2
  • YOSHIYUKI OKANO
    • 3
  • ERI SHINOZAKI
    • 4
  • MASAHIKO KAWAI
    • 5
  • HATASU KOBAYASHI
    • 1
  • KOUJI H. HARADA
    • 1
  • AKIO KOIZUMI
    • 1
  1. 1.Department of Health and Environmental SciencesKyoto University Graduate School of MedicineKyotoJapan
  2. 2.Faculty of Medical Sciences, Department of Health ScienceUniversity of FukuiFukuiJapan
  3. 3.Department of GeneticsHyogo College of MedicineNishinomiyaJapan
  4. 4.Ishikawa Prefectural Central HospitalKanazawaJapan
  5. 5.Department of Pediatrics (NICU)Kyoto University HospitalShogoinJapan

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