Volume 21, Issue 7

Journal of Inherited Metabolic Disease is now archived and no longer receiving submissions with this publisher. All articles published in the journal during its time with Springer will remain fully searchable through our websites.

Search all Journal of Inherited Metabolic Disease articles

October 1998

9 articles in this issue

The metabolism of phytanic acid and pristanic acid in man: A review
N. M. Verhoeven
R. J. A. Wanders
C. Jakobs
OriginalPaper Pages: 697 - 728
Renal transplantation in a patient with methylmalonic acidaemia
S. C. Van Calcar
C. O. Harding
J. A. Wolff
OriginalPaper Pages: 729 - 737
Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control
S. Yap
E. Naughten
OriginalPaper Pages: 738 - 747
Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency
J-P. Harpey
D. Heron
V. Cormier-Daire
OriginalPaper Pages: 748 - 752
Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis
N. M. Verhoeven
C. Jakobs
C. R. Roe
OriginalPaper Pages: 753 - 760
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
G. Salen
OriginalPaper Pages: 761 - 768
Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling
R. Saleem
R. Gofin
A. Boneh
OriginalPaper Pages: 769 - 780
Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations
K. Kurosawa
H. Ida
Y. Eto
OriginalPaper Pages: 781 - 782
Erratum

OriginalPaper Pages: 783 - 783

Volume 21, Issue 7

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