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Inborn errors of metabolism (IEM) -- an Indian perspective.
Inborn errors of metabolism (IEM) -- an Indian perspective.
- Source :
-
Indian journal of pediatrics [Indian J Pediatr] 2005 Apr; Vol. 72 (4), pp. 325-32. - Publication Year :
- 2005
-
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.
- Subjects :
- Brain Diseases, Metabolic diagnosis
Brain Diseases, Metabolic therapy
Child
Diagnosis, Differential
Emergencies
Hepatolenticular Degeneration diagnosis
Hepatolenticular Degeneration therapy
Heredodegenerative Disorders, Nervous System diagnosis
Humans
India
Infant
Infant, Newborn
Maple Syrup Urine Disease diagnosis
Maple Syrup Urine Disease therapy
Menkes Kinky Hair Syndrome diagnosis
Menkes Kinky Hair Syndrome therapy
Phenylketonurias diagnosis
Phenylketonurias therapy
Metabolism, Inborn Errors diagnosis
Metabolism, Inborn Errors therapy
Subjects
Details
- Language :
- English
- ISSN :
- 0973-7693
- Volume :
- 72
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Indian journal of pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 15876762