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Clinical and biochemical characteristics of peroxisomal disorders: an update.
Wanders RJ, Barth PG, Schutgens RB, Tager JM. Wanders RJ, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S44-8. doi: 10.1007/BF02138777. Eur J Pediatr. 1994. PMID: 7957386 Review.
Rhizomelic chondrodysplasia punctata, its recently identified variant form and glutaryl-CoA oxidase deficiency will show no abnormalities and must be identified by other means. ...
Rhizomelic chondrodysplasia punctata, its recently identified variant form and glutaryl-CoA oxidase deficiency w …
Glutaric aciduria type III: a distinctive non-disease?
Knerr I, Zschocke J, Trautmann U, Dorland L, de Koning TJ, Müller P, Christensen E, Trefz FK, Wündisch GF, Rascher W, Hoffmann GF. Knerr I, et al. J Inherit Metab Dis. 2002 Oct;25(6):483-90. doi: 10.1023/a:1021207419125. J Inherit Metab Dis. 2002. PMID: 12555941
Glutaric aciduria type III (a defect reported to be caused by peroxisomal glutaryl-CoA oxidase deficiency) is our presumptive diagnosis. However, peroxisomal glutaryl-CoA oxidase is not well characterized and no reliable approach for the direct determi …
Glutaric aciduria type III (a defect reported to be caused by peroxisomal glutaryl-CoA oxidase deficiency) is ou …