Associated Papers
Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review.
Chen Y et al.
Molecular Genetics and Metabolism Reports, 2024
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
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.
Guo Z et al.
Molecular Genetics and Genomics : Mgg, 2023
A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1.
Rayat S et al.
Clinical Case Reports, 2021
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene.
Kurkina MV et al.
Metabolic Brain Disease, 2020
Experiences during newborn screening for glutaric aciduria type 1: Diagnosis, treatment, genotype, phenotype, and outcomes.
Tsai FC et al.
Journal of the Chinese Medical Association : Jcma, 2017
Recurrent rhabdomyolysis and glutaric aciduria type I: a case report and literature review.
Qian GL et al.
World Journal of Pediatrics : Wjp, 2016
Spectrum of mutations in Glutaryl-CoA dehydrogenase gene in glutaric aciduria type I--Study from South India.
Radha Rama Devi A et al.
Brain & Development, 2016
[Mutation analysis of GCDH gene in four patients with glutaric academia type I].
Liu Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2015
Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.
Fraidakis MJ et al.
Jimd Reports, 2015
Clinical and mutational spectra of 23 Chinese patients with glutaric aciduria type 1.
Wang Q et al.
Brain & Development, 2014
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1].
Wang Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2014
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
Lee CS et al.
Metabolic Brain Disease, 2013
Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Mushimoto Y et al.
Molecular Genetics and Metabolism, 2011
Early detection of glutaric aciduria type I by newborn screening in Taiwan.
Hsieh CT et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2008
Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families.
Lin SK et al.
Prenatal Diagnosis, 2002
Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families.
Tang NL et al.
Human Mutation, 2000
Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1.
Abdul Wahab SA et al.
Biomed Research International, 0