Literature DB >> 24413507

Inborn errors of metabolism in a tertiary care hospital of eastern India.

Moushumi Lodh1, Anand Kerketta.   

Abstract

Inborn errors of metabolism are a challenge on a diagnostic and therapeutic level. All newborn babies in our hospital were screened over 4 years. 91 (15%) neonates were screen positive for IEM, G6PD being the most common. Early detection and treatment can improve outcomes.

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Year:  2013        PMID： 24413507     DOI： 10.1007/s13312-013-0303-x

Source DB:  PubMed          Journal:  Indian Pediatr        ISSN： 0019-6061            Impact factor:   1.411


  5 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.  Need and Viability of Newborn Screening Programme in India: Report from a Pilot Study.

Authors:  Arya Raveendran; Teena Joseph Chacko; Priya Prabhu; Raghava Varma; Leslie Edward Lewis; Pragna Rao; Prajna P Shetty; Yajna S Phaneendra Mallimoggala; Asha Hedge; Dinesh M Nayak; Sudeep Moorkoth; Sudheer Moorkoth
Journal:  Int J Neonatal Screen       Date:  2022-03-29

3.  Medical genetics and genomic medicine in India: current status and opportunities ahead.

Authors:  Shagun Aggarwal; Shubha R Phadke
Journal:  Mol Genet Genomic Med       Date:  2015-05       Impact factor: 2.183

4.  Integrating rare disease management in public health programs in India: exploring the potential of National Health Mission.

Authors:  Mohua Chakraborty Choudhury; Pragya Chaube
Journal:  Orphanet J Rare Dis       Date:  2022-02-10       Impact factor: 4.123

5.  Comment on: Childhood optic atrophy in biotinidase deficiency.

Authors:  N Venugopal; Sherin Kummararaj
Journal:  Indian J Ophthalmol       Date:  2016-08       Impact factor: 1.848
  5 in total

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