Literature DB >> 15580356

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

Yoshitaka Toriumi1, Kohji Murata, Takeshi Taketani, Atsushi Uchiyama, Takaharu Ohie, Seiji Yamaguchi.   

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Year:  2004        PMID： 15580356     DOI： 10.1007/s00431-004-1592-9

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  7 in total

Review 1.  Clinical and genetic heterogeneity in congenital hyperinsulinism.

Authors:  Thomas Meissner; Ertan Mayatepek
Journal:  Eur J Pediatr       Date:  2002-01       Impact factor: 3.183

2.  Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome.

Authors:  B Y Hsu; A Kelly; P S Thornton; C R Greenberg; L A Dilling; C A Stanley
Journal:  J Pediatr       Date:  2001-03       Impact factor: 4.406

3.  Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene. HI/HA Contributing Investigators.

Authors:  C A Stanley; J Fang; K Kutyna; B Y Hsu; J E Ming; B Glaser; M Poncz
Journal:  Diabetes       Date:  2000-04       Impact factor: 9.461

4.  A syndrome of congenital hyperinsulinism and hyperammonemia.

Authors:  S A Weinzimer; C A Stanley; G T Berry; M Yudkoff; M Tuchman; P S Thornton
Journal:  J Pediatr       Date:  1997-04       Impact factor: 4.406

5.  Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene.

Authors:  C A Stanley; Y K Lieu; B Y Hsu; A B Burlina; C R Greenberg; N J Hopwood; K Perlman; B H Rich; E Zammarchi; M Poncz
Journal:  N Engl J Med       Date:  1998-05-07       Impact factor: 91.245

6.  Biochemical evaluation of a patient with a familial form of leucine-sensitive hypoglycemia and concomitant hyperammonemia.

Authors:  E Zammarchi; L Filippi; E Novembre; M A Donati
Journal:  Metabolism       Date:  1996-08       Impact factor: 8.694

7.  Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase.

Authors:  C MacMullen; J Fang; B Y Hsu; A Kelly; P de Lonlay-Debeney; J M Saudubray; A Ganguly; T J Smith; C A Stanley
Journal:  J Clin Endocrinol Metab       Date:  2001-04       Impact factor: 5.958
  7 in total
  1 in total

1.  Mitochondrial GTP insensitivity contributes to hypoglycemia in hyperinsulinemia hyperammonemia by inhibiting glucagon release.

Authors:  Richard G Kibbey; Cheol Soo Choi; Hui-Young Lee; Over Cabrera; Rebecca L Pongratz; Xiaojian Zhao; Andreas L Birkenfeld; Changhong Li; Per-Olof Berggren; Charles Stanley; Gerald I Shulman
Journal:  Diabetes       Date:  2014-07-14       Impact factor: 9.461
  1 in total

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