Pyruvate Dehydrogenase E3-Binding Protein Deficiency (PDHXD)
Author:
Publisher
Springer International Publishing
Link
https://link.springer.com/content/pdf/10.1007/978-3-319-66816-1_1789-1
Reference5 articles.
1. Brown RM, Head RA, Brown GK (2002) Pyruvate dehydrogenase E3 binding protein deficiency. Hum Genet 110:187–191. https://doi.org/10.1007/s00439-001-0665-3
2. Ganetzky R, McCormick EM, Falk MJ (1993) Primary pyruvate dehydrogenase complex deficiency overview. In: Adam MP et al (eds) GeneReviews(®). University of Washington, Seattle
3. Ivanov IS et al (2014) Founder p.Arg 446* mutation in the PDHX gene explains over half of cases with congenital lactic acidosis in. Roma children Molecular genetics and metabolism 113:76–83. https://doi.org/10.1016/j.ymgme.2014.07.017
4. Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW (1990) Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia. J Clin Invest 85:1821–1824. https://doi.org/10.1172/jci114641
5. Rouillac C et al (1999) First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex. Prenat Diagn 19:1160–1164. https://doi.org/10.1002/(sici)1097-0223(199912)19:12<1160::aid-pd712>3.0.co;2-2
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