An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia-Reference-Cited by-同舟云学术

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Published:2018-04-20 Issue:1 Volume:19 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Lisyová Jana^ORCID,Chandoga Ján,Jungová Petra,Repiský Marcel,Knapková Mária,Machková Martina,Dluholucký Svetozár,Behúlová Darina,Šaligová Jana,Potočňáková Ľudmila,Lysinová Miroslava,Böhmer Daniel

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0566-0.pdf

Reference27 articles.

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2. Bennett MJ, Gray RG, Isherwood DM, Murphy N, Pollitt RJ. The diagnosis and biochemical investigation of a patient with a short chain fatty acid oxidation defect. J Inherit Metab Dis. 1985;8(Suppl 2):135–6.

3. Amendt BA, Greene C, Sweetman L, Cloherty J, Shih V, Moon A, Teel L, Rhead WJ. Short-chain acyl-coenzyme a dehydrogenase deficiency. Clinical and biochemical studies in two patients. J Clin Invest. 1987;79(5):1303–9.

4. Tonin R, Caciotti A, Funghini S, Pasquini E, Mooney SD, Cai B, Proncopio E, Donati MA, Baronio F, Bettocchi I, Cassio A, Biasucci G, Bordugo A, la Marca G, Guerrini R, Morrone A. Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation. BBA Clin. 2016;5:114–9.

5. van Maldegem BT, Duran M, Wanders RJ, Niezen-Koning KE, Hogeveen M, Ijlst L, Waterham HR, Wijburg FA. Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme a dehydrogenase deficiency. JAMA. 2006;296(8):943–52.

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