Lipoprotein lipase deficiency in an infant.
Indian Pediatr
; 48(10): 805-6, 2011 Oct.
Article
em En
| MEDLINE
| ID: mdl-22080683
ABSTRACT
Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Lipase Lipoproteica
/
Hiperlipoproteinemia Tipo I
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Indian Pediatr
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Índia