Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1-Reference-Cited by-同舟云学术

Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1

Published:2022-07 Issue: Volume:39 Page:49-58
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Paria Pradip,Saini Arushi Gahlot^ORCID,Attri Savita,Kaur Rajdeep,Malhi Prahbhjot,Didwal Gunjan,Kasinathan Ananthanarayanan,Bhatia Prateek^ORCID,Sahu Jitendra Kumar,Suthar Renu,Saini Lokesh,Vyas Sameer,Panigrahi Inusha,Sankhyan Naveen

Funder

PGIMER

ICMR

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health

Reference36 articles.

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3. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency;Kolker;Pediatr. Res.,2006

4. Type I glutaric aciduria, part 1: natural history of 77 patients;Strauss;Am. J. Med. Genet. C Semin. Med. Genet.,2003

5. Mutation analysis in glutaric aciduria type I;Zschocke;J. Med. Genet.,2000

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1. Knowledge and experiences of healthcare workers in managing children with neurometabolic disorders in a developing country: a cross-sectional study;Journal of Tropical Pediatrics;2023-08-01

2. Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review;Molecular Genetics and Genomics;2023-03-11