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Inborn errors of metabolism (IEM) -- an Indian perspective.
Indian J Pediatr ; 2005 Apr; 72(4): 325-32
Article in English | 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.
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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Phenylketonurias / Brain Diseases, Metabolic / Humans / Infant, Newborn / Child / Heredodegenerative Disorders, Nervous System / Diagnosis, Differential / Emergencies / Hepatolenticular Degeneration / India Type of study: Diagnostic study Country/Region as subject: Asia Language: English Journal: Indian J Pediatr Year: 2005 Type: Article

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Full text: Available Index: IMSEAR (South-East Asia) Main subject: Phenylketonurias / Brain Diseases, Metabolic / Humans / Infant, Newborn / Child / Heredodegenerative Disorders, Nervous System / Diagnosis, Differential / Emergencies / Hepatolenticular Degeneration / India Type of study: Diagnostic study Country/Region as subject: Asia Language: English Journal: Indian J Pediatr Year: 2005 Type: Article