| 1 | ACAA1, EHHADH, PBE
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| Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.
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| Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ.
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| Am J Hum Genet 70(6):1589-93. Epub 2002 Apr 23. 2002
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| 2 | EHHADH, PBE
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| Peroxisomal bifunctional protein deficiency revisited : resolution of its true enzymatic and molecular basis.
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| van Grunsven EG, et al.
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| Am J Hum Genet 64 : 99-107. 1999
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| 3 | EHHADH, HSD17B4, PBE, ZWS4
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| Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency.
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| van Grunsven EG, Mooijer PA, Aubourg P, Wanders RJ.
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| Hum Mol Genet 8(8):1509-16. 1999
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| 4 | EHHADH, PBE
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| Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA.
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| Fukuda S, Suzuki Y, Shimozawa N, Zhang Z, Orii T, Aoyama T, Hashimoto T, Kondo N.
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| J Inherit Metab Dis 21(1):23-8. 1998
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| 5 | EHHADH, PBE
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| Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency : resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency.
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| Van Grunsven EG, et al.
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| Proc Natl Acad Sci U S A 95 : 2128-2133. 1998
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| 6 | EHHADH, PBE
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| D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.
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| Suzuki Y, Jiang LL, Souri M, Miyazawa S, Fukuda S, Zhang Z, Une M, Shimozawa N, Kondo N, Orii T, Hashimoto T.
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| Am J Hum Genet 61(5):1153-62. 1997
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| 7 | EHHADH, PBE
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| Pathology of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation.
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| Tyni T, Rapola J, Paetau A, Palotie A, Pihko H.
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| Pediatr Pathol Lab Med 17(3):427-47. 1997
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| 8 | EHHADH, PBE
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| Peroxisomal bifunctional enzyme deficiency.
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| Watkins PA, et al.
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| J Clin Invest 83 : 771-777. 1989
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