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Prenatal diagnosis of glycogen storage disorder type III

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Abstract

Among glycogen storage disorders, deficiency of glycogen debranching enzyme causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure in liver and muscle. This report describes a novel mutation in a family with glycogen storage disorder Type III in index child used in prenatal diagnosis in the fetus in second trimester.

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Authors and Affiliations

  1. Department of Clinical Genetics, Fetal Care Research Foundation, Chennai, India

    J. Sujatha, I. V. Amithkumar & B. Lathaa

Authors
  1. J. Sujatha
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  2. I. V. Amithkumar
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  3. B. Lathaa
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Correspondence to J. Sujatha.

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Sujatha, J., Amithkumar, I.V. & Lathaa, B. Prenatal diagnosis of glycogen storage disorder type III. Indian Pediatr 47, 354–355 (2010). https://doi.org/10.1007/s13312-010-0051-0

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  • DOI: https://doi.org/10.1007/s13312-010-0051-0

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