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Fanconi–Bickel Syndrome

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Abstract

We Present the first mutation proven case of Fanconi–Bickel syndrome, a rare type of glycogen storage disease, from India. A four-year-old girl presented with severe growth retardation, genu varum and hepatomegaly. Investigations confirmed severe hypophosphatemic rickets and Fanconi syndrome. Molecular analysis confirmed a homozygous deletion insertion mutation in Glut 2 gene.

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Authors and Affiliations

  1. Department of Pediatrics, Medical College, Calicut, Kerala, India

    Mohandas Nair K

  2. Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai, 980-8574, Japan

    Osamu Sakamoto

  3. Fetal Care Research Foundation, Chennai, India

    Sujatha Jagadeesh

  4. Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Center, Aims Ponekkara PO, Cochin, Kerala, 682041, India

    Sheela Nampoothiri

Authors
  1. Mohandas Nair K
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  2. Osamu Sakamoto
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  3. Sujatha Jagadeesh
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  4. Sheela Nampoothiri
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Correspondence to Sheela Nampoothiri.

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Mohandas Nair K, Sakamoto, O., Jagadeesh, S. et al. Fanconi–Bickel Syndrome. Indian J Pediatr 79, 112–114 (2012). https://doi.org/10.1007/s12098-011-0373-5

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  • DOI: https://doi.org/10.1007/s12098-011-0373-5

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