Hyperinsulinism-hyperammonemia syndrome due to a de novo mutation in exon 7 (G979A) of the glutamate dehydrogenase gene with excellent response to diazoxide;Síndrome de hiperinsulinismo-hiperamoniemia por mutación de novo en el exón 7 (G979A) del gen GLUD-1, con excelente respuesta a diazóxido

Anales de Pediatria

Volumn 61, Issue 5, 2004, Pages 433-437

  Montero Luis, C ^a   Pozo Roman J ^a   Munoz Calvo Ma T ^a   Martos Moreno, G ^a   Donoso, Ma A ^a   Rubio Cabezas, O ^a   Argente Oliver, J ^a  

^a HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

Author keywords

Glutamate dehydrogenase; Hyperammonemia; Hyperinsulinism; Hypoglycemia

Indexed keywords

DIAZOXIDE; GLUTAMATE DEHYDROGENASE;

ARTICLE; CASE REPORT; CHILDHOOD DISEASE; CHROMOSOME 10Q; DISEASE ASSOCIATION; DNA MODIFICATION; ENZYME METABOLISM; GENE MUTATION; GENETIC DISORDER; HUMAN; HYPERAMMONEMIA; HYPERINSULINISM; HYPOGLYCEMIA; MALE; PRESCHOOL CHILD; RECURRENT DISEASE; SYMPTOMATOLOGY; SYNDROME DELINEATION; TREATMENT OUTCOME;

EID: 9744256201     PISSN: 16954033     EISSN: None     Source Type: Journal    
DOI: 10.1157/13068033     Document Type: Article

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