Hyperinsulinism and hyperammonaemia syndrome due to a novel missense mutation in the allosteric domain of the Glutamate dehydrogenase 1 gene

Journal of Paediatrics and Child Health

Volumn 44, Issue 9, 2008, Pages 517-519

  Chik, Kar Ki ^a   Chan, Chun Wing ^a   Lam, Ching Wan ^b   Ng, Kwok Leung ^a  

^a UNITED CHRISTIAN HOSPITAL   (Hong Kong)

^b CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

Hyperammonaemia; Hyperinsulinism; Hypoglycaemia

Indexed keywords

AMMONIA; CARNITINE; DIAZOXIDE; GLUCOSE; GLUTAMATE DEHYDROGENASE; GROWTH HORMONE; HYDROCORTISONE; INSULIN; POLYCAL POWDER; S26 GOLD;

AMMONIA BLOOD LEVEL; ARTICLE; CASE REPORT; FAMILY HISTORY; FOCAL EPILEPSY; GLUCOSE BLOOD LEVEL; GLUCOSE INFUSION; GROWTH HORMONE BLOOD LEVEL; HUMAN; HYDROCORTISONE BLOOD LEVEL; HYPERAMMONEMIA; HYPERINSULINISM; INFANT; INSULIN BLOOD LEVEL; MALE; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL;

ALLOSTERIC SITE; GLUTAMATE DEHYDROGENASE; HONG KONG; HUMANS; HYPERAMMONEMIA; HYPERGLYCEMIA; HYPERINSULINISM; INFANT; MALE; MUTATION, MISSENSE;

EID: 50049121275     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2008.01361.x     Document Type: Article

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