[Non-ketotic hyperglycinaemia: the report of four affected families]
Maghreb Medical. 2006; 26 (378): 56-59
em Francês
| IMEMR
| ID: emr-78949
ABSTRACT
Non -ketotic hyperglycinaemia is an autosomal recessive disorder of inborn glycine metabolism caused by a defect in the glycine cleavage system. This disease leads to severe neurologic disorders beginning frequently in the neonatal period. The authors report the six cases of affected newborns diagnosed in the Neonatal Unit of le Centre de Maternite et de Neonatalogie de Tunis during a period of 17 years
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Recém-Nascido
/
Erros Inatos do Metabolismo
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Francês
Revista:
Maghreb Med.
Ano de publicação:
2006
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