Elisabeth M. Brouwer-Kelder

TL;DR: The finding that both very-long-chain fatty acids and abnormal bile acids accumulate in this patient suggests that a single peroxisomal 3-oxoacyl-CoA thiolase is involved in the oxidative chain shortening of bothvery- long-chain acids and the coprostanoic acids.

TL;DR: Fraction I consists of the precursor form of α-glucosidase and fraction II of the mature forms of the enzyme, and the importance of urine as a source of precursors of lysosomal enzymes is discussed.

TL;DR: The results indicate that the peroxisomal beta-oxidation enzyme proteins are not only present immunologically but also functionally active which suggests that the defect in X-linked adrenoleukodystrophy is, indeed, as recently suggested by Hashmi and coworkers at the level of a deficient peroxISomal activation of very long chain fatty acids.

TL;DR: Glucocerebrosidase in fibroblasts from some type 1 Gaucher patients, particularly some South African cases, was comparable in properties to enzyme in type 2 and 3 patients.

TL;DR: It is concluded that a thiol proteinase is involved in the maturation of alpha-glucosidase in fibroblasts and the appearance of the antigenic determinant for 43G8.