Literature DB >> 28386828

Inborn errors of metabolism (IEM) - an Indian perspective.

N B Kumta1.   

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.

Entities:  

Keywords:  Childhood; Inborn errors of metabolism; India; Neurometabolic

Year:  2005        PMID: 28386828     DOI: 10.1007/BF02724016

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  3 in total

1.  Burden of genetic disorders in India.

Authors:  I C Verma
Journal:  Indian J Pediatr       Date:  2000-12       Impact factor: 1.967

Review 2.  Inborn errors of metabolism in infancy: a guide to diagnosis.

Authors:  B K Burton
Journal:  Pediatrics       Date:  1998-12       Impact factor: 7.124

3.  Multicentric study on genetic causes of mental retardation in India. ICMR Collaborating Centres & Central Co-ordinating Unit.

Authors: 
Journal:  Indian J Med Res       Date:  1991-04       Impact factor: 2.375

  3 in total
  2 in total

1.  Status of Newborn Screening and Inborn Errors of Metabolism in India.

Authors:  Seema Kapoor; B K Thelma
Journal:  Indian J Pediatr       Date:  2018-05-07       Impact factor: 1.967

2.  Profile of inborn errors of metabolism in a tertiary care centre PICU.

Authors:  Mahesh Kamate; Vivek Chetal; Vijaylaxmi Kulgod; Vishwanath Patil; Rita Christopher
Journal:  Indian J Pediatr       Date:  2010-02-05       Impact factor: 1.967

  2 in total

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