Issue 7/1998
Content (9 Articles)
The metabolism of phytanic acid and pristanic acid in man: A review
N. M. Verhoeven, R. J. A. Wanders, B. T. Poll-The, J.-M. Saudubray, C. Jakobs
Renal transplantation in a patient with methylmalonic acidaemia
S. C. Van Calcar, C. O. Harding, P. Lyne, K. Hogan, R. Banerjee, H. Sollinger, R. E. Rieselbach, J. A. Wolff
Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency
J-P. Harpey, D. Heron, M. Prudent, C. Charpentier, P. Rustin, G. Ponsot, V. Cormier-Daire
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N. M. Verhoeven, C. Jakobs, H. J. Ten Brink, R. J. A. Wanders, C. R. Roe
Accurate detection of Smith–Lemli–Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts
M. Honda, G. S. Tint, S. Shefer, A. Honda, A. K. Batta, G. Xu, T. S. Chen, G. Salen
Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling
R. Saleem, R. Gofin, Z. Ben-Neriah, A. Boneh