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A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment.

AuthorsYoshitaka Toriumi, Kohji Murata, Takeshi Taketani, Atsushi Uchiyama, Takaharu Ohie, Seiji Yamaguchi
JournalEuropean journal of pediatrics (Eur J Pediatr) Vol. 164 Issue 3 Pg. 182-3 (Mar 2005) ISSN: 0340-6199 [Print] Germany
PMID15580356 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Glutamate Dehydrogenase
  • Leucine
Topics
  • Child
  • Exons
  • Female
  • Glutamate Dehydrogenase (genetics)
  • Humans
  • Hyperammonemia (diagnosis, genetics)
  • Hyperinsulinism (diagnosis, genetics)
  • Hypoglycemia
  • Leucine
  • Mutation
  • Syndrome

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