| 1 | DLD, DLDD
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| Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
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| Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH.
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| Am J Med Genet A 140(14):1542-52. 2006
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| 2 | DLD, DLDD
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| A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
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| Odievre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rotig A, Rustin P, Bonnefont JP.
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| Hum Mutat 25(3):323-4. Review. 2005
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| 3 | DLD, DLDD
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| Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence.
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| Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A.
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| Hum Mutat 10(3):256-7. 1997
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| 4 | DLD, DLDD
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| Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.
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| Hong YS, et al.
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| Hum Mol Genet 5 : 1925-1930. 1996
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| 5 | DLD, DLDD
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| Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient.
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| Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS.
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| Proc Natl Acad Sci U S A 90(11):5186-90. 1993
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| 6 | DLD, DLDD, PDHA1
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| Isolated and combined deficiencies of the alpha-keto-acid dehydrogenase complexes.
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| Robinson BH, Chun K, Mackay N, Otulakowski G, Petrova-Benedict R, Willard H.
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| Ann NY Acad Sci 573 : 337-346. 1990
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| 7 | DLD, DLDD
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| Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
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| Matuda S, et al.
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| Clin Chim Acta 140 : 59-64. 1984
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| 8 | DLD, DLDD
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| Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect : dihydrolipoyl dehydrogenase deficiency.
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| Munnich A, et al.
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| Acta Paediatr Scand 71 : 167-171. 1982
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| 9 | DLD, DLDD
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| The genetic heterogeneity of lactic acidosis : occurence of a recognisable inborn error of metabolism in a pediatric population with lactic acidosis.
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| Robinson BH, et al.
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| Pediatr Res 14 : 956-962. 1980
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| 10 | DLD, DLDD
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| A defect in branch-chain amino acid metabolism in a patient with congenital lactic acidosis due to a dihydrolipoyl dehydrogenase deficiency.
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| Taylor J, et al.
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| Pediatr Res 12 : 60-62. 1978
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