Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 7

Results: 9

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 783, doi. 10.1023/A:1017120402285
Publication type:: Article

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 781, doi. 10.1023/A:1005405418215

By:

Kurosawa, K.;
Ida, H.;
Eto, Y.

Publication type:

Article

Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 769, doi. 10.1023/A:1005453301377

By:

Saleem, R.;
Gofin, R.;
Ben-Neriah, Z.;
Boneh, A.

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 761, doi. 10.1023/A:1005401317306

By:

Honda, M.;
Tint, G.;
Shefer, S.;
Honda, A.;
Batta, A.;
Xu, G.;
Chen, T.;
Salen, G.

Publication type:

Article

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 753, doi. 10.1023/A:1005449200468

By:

Verhoeven, N.;
Jakobs, C.;
Ten Brink, H.;
Wanders, R.;
Roe, C.

Publication type:

Article

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 748, doi. 10.1023/A:1005497116398

By:

Harpey, J-P.;
Heron, D.;
Prudent, M.;
Charpentier, C.;
Rustin, P.;
Ponsot, G.;
Cormier-Daire, V.

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 738, doi. 10.1023/A:1005445132327

By:

Yap, S.;
Naughten, E.

Publication type:

Article

Renal transplantation in a patient with methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 729, doi. 10.1023/A:1005493015489

By:

Van Calcar, S.;
Harding, C.;
Lyne, P.;
Hogan, K.;
Banerjee, R.;
Sollinger, H.;
Rieselbach, R.;
Wolff, J.

Publication type:

Article

The metabolism of phytanic acid and pristanic acid in man: A review.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 697, doi. 10.1023/A:1005476631419

By:

Verhoeven, N.;
Wanders, R.;
Poll-The, B.;
Saudubray, J.-M.;
Jakobs, C.

Publication type:

Article