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An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis

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Acknowledgements

We thank Drs. Yoichi Matsubara and Shigeo Kure (Tohoku University) for the glucose-6-phosphatase gene mutation screening; Dr. Hideo Sugie (Hamamatsu City Medical Centre for Developmental Medicine) for the enzyme assays of phosphorylase, phosphorylase b kinase, and debranching enzyme and Dr. Keiko Kobayashi (Kagoshima University Graduate School of Medical and Dental Sciences) for the SLC25A13mutation screening.

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Authors and Affiliations

  1. Department of Paediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, 980-8574 , Sendai , Japan

    Osamu Sakamoto, Kazuie Iinuma & Toshihiro Ohura

  2. Department of General Paediatrics, Miyagi Children’s Hospital, Sendai, Japan

    Daiki Abukawa

  3. Department of Pathology, Miyagi Children’s Hospital, Sendai, Japan

    Junji Takeyama

  4. Shiogama City Hospital, Shiogama, Japan

    Nobuhiro Arai

  5. Department of Advanced Technologies and Development, BML Inc., Saitama, Japan

    Makoto Nagano, Hiroaki Hattori & Tohru Egashira

  6. Department of Internal Medicine and Molecular Science, Osaka University Graduate School of Medicine, Osaka, Japan

    Naohiko Sakai & Shizuya Yamashita

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  1. Osamu Sakamoto
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  2. Daiki Abukawa
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  3. Junji Takeyama
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  4. Nobuhiro Arai
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  7. Tohru Egashira
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  8. Naohiko Sakai
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  9. Shizuya Yamashita
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  10. Kazuie Iinuma
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  11. Toshihiro Ohura
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Correspondence to Toshihiro Ohura.

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Sakamoto, O., Abukawa, D., Takeyama, J. et al. An atypical case of abetalipoproteinaemia with severe fatty liver in the absence of steatorrhoea or acanthocytosis. Eur J Pediatr 165, 68–70 (2006). https://doi.org/10.1007/s00431-005-1751-7

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  • DOI: https://doi.org/10.1007/s00431-005-1751-7

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