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Pediatrie ; 48(12): 894-7, 1993.
Article in French | MEDLINE | ID: mdl-8047401

ABSTRACT

The authors report two cases of citrullinemia in siblings which add to 68 observations from the literature. They overview the clinical presentation, diagnosis and therapeutic management of the disease. The prognosis of severe neonatal form remains poor but an early adequate management may contribute to an acceptable outcome.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Citrulline/blood , Amino Acid Metabolism, Inborn Errors/genetics , Amino Acid Metabolism, Inborn Errors/therapy , Genes, Recessive , Humans , Infant , Male
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