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-Reference-Cited by-同舟云学术

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

Published:2023-03-11 Issue:3 Volume:298 Page:603-614
ISSN:1617-4615
Container-title:Molecular Genetics and Genomics
language:en
Short-container-title:Mol Genet Genomics

Author:

Guo Zihan,Gong Anyue,Liu Shiguo^ORCID,Liang Hui^ORCID

Funder

National Key Research and Development Program of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00438-023-02002-8.pdf

Reference42 articles.

1. Abdul Wahab SA, Yakob Y, Abdul Azize NA, Md Yunus Z, Huey Yin L, Mohd Khalid MK, Lock Hock N (2016) Clinical and mutational analysis of the GCDH gene in malaysian patients with glutaric aciduria type 1. Biomed Res Int 2016:4074365

2. Baric I, Wagne L, Feyh P, Liesert M, Buckel W, Hoffmann GF (1999) Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis 22(8):867–881

3. Boy N, Muhlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kolker S, Additional individual c, (2017) Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision. J Inherit Metab Dis 40:75–101

4. Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grunert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Nake A, Lindner M, Heringer J, Hoffmann GF, Muhlhausen C, Maier EM, Ensenauer R, Garbade SF, Kolker S (2018) Newborn screening: a disease-changing intervention for glutaric aciduria type 1. Ann Neurol 83:970–979

5. Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, Fernández-Alvarez E, Prats JM, Sans A, Arteaga R, Martí M, Campos J, Martínez-Pardo M, Martínez-Bermejo A, Ruiz-Falcó ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48(3):315–322

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