Inborn errors of metabolism (IEM) -- an Indian perspective.
Indian J Pediatr
;
2005 Apr; 72(4): 325-32
Artículo
en Inglés
| IMSEAR
| ID: sea-79970
ABSTRACT
The inborn errors of metabolism (IEM) constitute a diverse heterogeneous group of disorders with protean clinical manifestations presenting mainly in the pediatric population. Though individually rare, together they constitute a significant percentage of children seen in genetic and neurology clinics. This review focuses on selected IEMs and highlights those seen in the neonatal period. Data from Indian centers are presented. It also emphasizes principles of management in these difficult disorders in the context of a developing country.
Texto completo:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Fenilcetonurias
/
Encefalopatías Metabólicas
/
Humanos
/
Recién Nacido
/
Niño
/
Trastornos Heredodegenerativos del Sistema Nervioso
/
Diagnóstico Diferencial
/
Urgencias Médicas
/
Degeneración Hepatolenticular
/
India
Tipo de estudio:
Estudio diagnóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Pediatr
Año:
2005
Tipo del documento:
Artículo
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