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https://www.ias.ac.in/article/fulltext/jgen/094/01/0147-0150

newborn screening; SLC22A5 gene; systemic carnitine deficiency.

Toshiaki Hitomi¹ Norio Matsuura¹ Yosuke Shigematsu² Yoshiyuki Okano³ Eri Shinozaki⁴ Masahiko Kawai⁵ Hatasu Kobayashi¹ Kouji H. Harada¹ Akio Koizumi¹

1. Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Yoshida Konoecho, Kyoto 606-8501, Japan
2. Faculty of Medical Sciences, Department of Health Science, University of Fukui, Fukui 910-1193, Japan
3. Department of Genetics, Hyogo College of Medicine, 1-1 Mukogawa-cho, Nishinomiya 663-8501, Japan
4. Ishikawa Prefectural Central Hospital, Kuratsukihigashi, Kanazawa, Ishikawa 920-8530, Japan
5. Department of Pediatrics (NICU), Kyoto University Hospital, 54 Kawaharacho, Shogoin, Sakyo-ku, Kyoto 606-8507, Japan

Published

March 2015

Manuscript received

12 January 2014

Manuscript revised

31 March 2014

Accepted

23 September 2014

Early published

5 March 2015