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Prenatal Ultrasound and Magnetic Resonance Findings of Glutaric Acidemia Type 1 and Its Challenges in Prenatal Diagnosis. [PDF]

J Med Ultrasound
Wang JT, Lee HJ, Chang TY.
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Lipoyl deglutarylation by ABHD11 regulates mitochondrial and T cell metabolism. [PDF]

Nat Chem Biol
Grice GL, Minogue E, Coates HW, Debela M, Stopforth RJ, Wit N, Li Z, Crowley JP, Kaser A, Kaneider-Kaser N, Antrobus PR, Haigis MC, Johnson RS, Nathan JA.   +13 more
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Targeting emerging amino acid dependencies and transporters in cancer therapy. [PDF]

Front Pharmacol
Akinlalu A, Ogberefor E, Gao T, Sun D.
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Machine-learning developed an iron, copper, and sulfur-metabolism associated signature predicts lung adenocarcinoma prognosis and therapy response. [PDF]

Respir Res
Zhang L, Zhang X, Guan M, Zeng J, Yu F, Lai F.   +5 more
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A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts. [PDF]

Hum Mol Genet
Ilboudo Y, Brosseau N, Lo KS, Belhaj H, Moutereau S, Marshall K, Reid M, Kutlar A, Ashley-Koch AE, Telen MJ, Joly P, Galactéros F, Bartolucci P, Lettre G.   +13 more
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Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1

European Journal of Paediatric Neurology, 2022
To evaluate the pathogenic variants in GCDH gene and to assess the neurodevelopmental outcomes in children with Glutaric aciduria type 1 (GA-1).Cross-sectional observational study between January 2019 and June 2020 in consecutive North Indian children with a clinical and biochemical suspicion of GA-1.
Pradip Paria, Arushi Gahlot Saini, Savita Attri, Rajdeep Kaur, Prahbhjot Malhi, Gunjan Didwal, Ananthanarayanan Kasinathan, Prateek Bhatia, Jitendra Kumar Sahu, Renu Suthar, Lokesh Saini, Sameer Vyas, Inusha Panigrahi, Naveen Sankhyan   +13 more
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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
Autosomal recessive glutaric acidaemia type I (GA-I) is a rare hereditary metabolic disease characterized by increased organic acids and neurologic symptoms. Although numerous variants in the GCDH gene have been identified to be connected with the pathogenesis of GA-I, the relationship between genotype and phenotype remains uncertain. In this study, we
Zihan Guo, Anyue Gong, Shiguo Liu, Hui Liang   +3 more
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Large-scale Extraction of DNA by Using Salting-out Principle for Dried Blood Spots to Screen Multiple Mutations in GCDH Gene

Iranian Journal of Science and Technology, Transactions A: Science, 2021
Dried blood spots (DBS) are the best sampling for large and population-based genetic studies. The study aimed to develop a DNA extraction protocol for DBS samples in a 96-well microtiter plate format using DNA salting-out principle. The developed protocol was named High-Throughput Salting-Out (HTSO).
Muntaj Shaik, A. Alladi, AB. Vedamurthy, KS. Devaraju, M. Kamate, TP. Kruthika-Vinod   +5 more
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Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

Metabolic Brain Disease, 2020
Glutaric aciduria type 1 (GA1, deficiency of glutaryl CoA dehydrogenase, glutaric acidemia type 1) (ICD-10 code: E72.3; MIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl CoA dehydrogenase (GCDH).
Marina V. Kurkina, Svetlana V. Mihaylova, Galina V. Baydakova, Elena V. Saifullina, Sergey A. Korostelev, Denis V. Pyankov, Ilya V. Kanivets, Maksim A. Yunin, Natalya L. Pechatnikova, Ekaterina Y. Zakharova   +9 more
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Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene

Metabolic Brain Disease, 2020
Glutaric aciduria type 1 (GA-1) is a rare but treatable inherited disease caused by deficiency of glutaryl-CoA dehydrogenase activity due to GCDH gene mutations. In this study, we report 24 symptomatic GA-1 Brazilian patients, and present their clinical, biochemical, and molecular findings.
Angela Sitta, Gilian Guerreiro, Daniella de Moura Coelho, Vitoria Volfart da Rocha, Bianca Gomes dos Reis, Carmen Sousa, Laura Vilarinho, Moacir Wajner, Carmen Regla Vargas   +8 more
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