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

• Authors : Toriumi, Yoshitaka^1,2 ; Murata, Kohji¹; Taketani, Takeshi¹

Subjects: *SYNDROMES; *GLUTAMATE dehydrogenase; *THERAPEUTICS

• Source: European Journal of Pediatrics. Mar2005, Vol. 164 Issue 3, p182-183. 2p. 1 Graph.

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Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature.

• Authors : Ninković, Dorotea; Sarnavka, Vladimir; Bašnec, Anica

• Source: Journal of Pediatric Endocrinology & Metabolism; Sep2016, Vol. 29 Issue 9, p1083-1088, 6p

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Mitochondrial GTP Insensitivity Contributes to Hypoglycemia in Hyperinsulinemia Hyperammonemia by Inhibiting Glucagon Release.

• Authors : Kibbey, Richard G.; Cheol Soo Choi; Hui-Young Lee

Subjects: MITOCHONDRIAL proteins; GENETIC mutation; GLUTAMATE dehydrogenase

• Source: Diabetes; Dec2014, Vol. 63 Issue 12, p4218-4229, 12p, 1 Diagram, 2 Charts, 5 Graphs

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Biochemical evaluation of an infant with hypoglycemia resulting from a novel de novo mutation of the GLUD1 gene and hyperinsulinism-hyperammonemia syndrome.

• Authors : Balasubramaniam, Shanti; Kapoor, Ritika; Yeow, Janet Hua Hong

• Source: Journal of Pediatric Endocrinology & Metabolism; Jul/Aug2011, Vol. 24 Issue 7/8, p573-577, 5p

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The hyperinsulinism/hyperammonemia syndrome.

• Authors : Palladino, Andrew; Stanley, Charles

• Source: Reviews in Endocrine & Metabolic Disorders; Sep2010, Vol. 11 Issue 3, p171-178, 8p, 5 Diagrams, 3 Graphs

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