Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum.
Mol Genet Metab
; 93(3): 282-94, 2008 Mar.
Article
en En
| MEDLINE
| ID: mdl-18023224
Monogenic disorders that cause abnormal levels of plasma cholesterol and triglycerides have received much attention due to their role in metabolic dysfunction and cardiovascular disease. While these disorders often present clinically during adulthood, some present most commonly in the pediatric population and can have serious consequences if misdiagnosed or untreated. This review provides an overview of monogenic lipid disorders that present with unusually high or low levels of plasma cholesterol and/or triglycerides during infancy, childhood and adolescence. Biochemical and genetic findings, clinical presentation and treatment options are discussed with an emphasis upon recent advances in our understanding and management of these monogenic disorders.
Buscar en Google
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Serina Endopeptidasas
/
Dislipidemias
Límite:
Adolescent
/
Child
/
Humans
Idioma:
En
Revista:
Mol Genet Metab
Asunto de la revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Año:
2008
Tipo del documento:
Article
País de afiliación:
Canadá
Pais de publicación:
Estados Unidos