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A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features

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참고문헌 (10)

  1. Parker VE, "Genetics in endocrinology : genetic forms of severe insulin resistance : what endocrinologists should know", Eur J Endocrinol, 169, pp.R71~R80 (2013)
  2. Semple RK, "Genetic syndromes of severe insulin resistance", Endocr Rev, 32, pp.498~514 (2011)
  3. Moller DE, "Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance", Diabetes, 43, pp.247~255 (1994)
  4. Moritz W, "Functional properties of a heterozygous mutation(Arg1174Gln)in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient", FEBS Lett, 351, pp.276~280 (1994)
  5. Preumont V, "Hypoglycemia revealing heterozygous insulin receptor mutations", Diabetes Metab, 43, pp.95~96 (2017)
  6. Takahashi I, "Phenotypical variety of insulin resistance in a family with a novel mutation of the insulin receptor gene", Endocr J, 57, pp.509~516 (2010)
  7. Domínguez-García A, "Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome", J Pediatr Endocrinol Metab, 27, pp.561~564 (2014)
  8. Wei C, "Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations", Pediatr Diabetes, 18, pp.835~838 (2017)
  9. Ariza Jiménez AB, "INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review", Endocrinol Diabetes Nutr (Engl Ed), 66, pp.588~591 (2019)
  10. Musso C, "Clinical course of genetic diseases of the insulin receptor(type A and Rabson-Mendenhall syndromes) : a 30-year prospective", Medicine(Baltimore), 83, pp.209~222 (2004)

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