Literature DB >> 15876762

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:  

Mesh:

Year:  2005        PMID: 15876762

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


  6 in total

1.  Organic acidurias: an updated review.

Authors:  Kannan Vaidyanathan; M P Narayanan; D M Vasudevan
Journal:  Indian J Clin Biochem       Date:  2011-04-29

2.  Diagnosis of major organic acidurias in children: two years experience at a tertiary care centre.

Authors:  M P Narayanan; Vaidyanathan Kannan; K P Vinayan; D M Vasudevan
Journal:  Indian J Clin Biochem       Date:  2011-02-01

3.  Detection of inherited metabolic diseases in children with mental handicap.

Authors:  Chetna Bhatt; Zarangis Misra; Neelam Goyel
Journal:  Indian J Clin Biochem       Date:  2008-03-06

4.  Metabolic screening and its impact in children with nonsyndromic intellectual disability.

Authors:  Yasser F Ali; Salah El-Morshedy; Riad M Elsayed; Amr M El-Sherbini; Saber Am El-Sayed; Nasser Ismail A Abdelrahman; Abdulbasit Abdulhalim Imam
Journal:  Neuropsychiatr Dis Treat       Date:  2017-04-19       Impact factor: 2.570

5.  Universal Implementation of Newborn Screening in India.

Authors:  Thomas Mookken
Journal:  Int J Neonatal Screen       Date:  2020-03-25

6.  Communication Impairments in Children with Inborn Errors of Metabolism: A Preliminary Study.

Authors:  Shivani Tiwari; Divya Kallianpur; Kelly Ann DeSilva
Journal:  Indian J Psychol Med       Date:  2017 Mar-Apr
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.