Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Clinical Neurology,Biochemistry
Reference42 articles.
1. Adzhubei, I., D. M. Jordan and S. R. Sunyaev (2013) Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet Chapter 7: Unit7.20.
2. Ali SK, Sneha P, Priyadharshini Christy J, Zayed H, George Priya Doss C (2016) Molecular dynamics-based analyses of the structural instability and secondary structure of the fibrinogen gamma chain protein with the D356V mutation. J Biomol Struct Dyn:1–11
3. Baric I, Wagner L, Feyh P, Liesert M, Buckel W et al (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 22:867–881
4. Biery BJ, Stein DE, Morton DH, Goodman SI (1996) Gene structure and mutations of glutaryl-coenzyme a dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet 59:1006–1011
5. Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway CJ et al (2008) Glutaric aciduria type I: outcome following detection by newborn screening. J Inherit Metab Dis 31:503–507
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