Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes

Affiliations

M S Patel et al. Methods Enzymol. 2000.

. 2000:324:453-64.

doi: 10.1016/s0076-6879(00)24253-5.

¹ Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York, Buffalo 14214, USA.

No abstract available

Similar articles

Targeting E3 component of alpha-keto acid dehydrogenase complexes.
Johnson MT, Yang HS, Patel MS. Johnson MT, et al. Methods Enzymol. 2000;324:465-76. doi: 10.1016/s0076-6879(00)24254-7. Methods Enzymol. 2000. PMID: 10989453 No abstract available.
Diagnosis and mutational analysis of maple syrup urine disease using cell cultures.
Chuang JL, Chuang DT. Chuang JL, et al. Methods Enzymol. 2000;324:413-23. doi: 10.1016/s0076-6879(00)24250-x. Methods Enzymol. 2000. PMID: 10989449 No abstract available.
[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].
Nobukuni Y, Mitsubuchi H, Indo Y, Endo F, Matsuda I. Nobukuni Y, et al. Seikagaku. 1992 Feb;64(2):67-82. Seikagaku. 1992. PMID: 1593184 Review. Japanese. No abstract available.
Molecular genetic basis for inherited human disorders of branched-chain alpha-keto acid dehydrogenase complex.
Danner DJ, Litwer S, Herring WJ, Elsas LJ. Danner DJ, et al. Ann N Y Acad Sci. 1989;573:369-77. doi: 10.1111/j.1749-6632.1989.tb15012.x. Ann N Y Acad Sci. 1989. PMID: 2699404 Review. No abstract available.
Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.
Jinno Y, Akaboshi I, Matsuda I. Jinno Y, et al. Hum Genet. 1984;68(1):54-6. doi: 10.1007/BF00293872. Hum Genet. 1984. PMID: 6500555

Maternal enzyme masks the phenotype of mouse embryos lacking dihydrolipoamide dehydrogenase.
Johnson M, Vang P, Filipovits J, Gardner D. Johnson M, et al. Reprod Biomed Online. 2009 Jul;19(1):79-88. doi: 10.1016/s1472-6483(10)60050-8. Reprod Biomed Online. 2009. PMID: 19573295 Free PMC article.