Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 2

Results: 23

The 34th Annual Symposium of the SSIEM - Cardiff 1996.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 111, doi. 10.1023/A:1005398723303

By:

Shortland, G.J.;
Pollitt, R.J.;
Besley, G.T.N.;
Brown, G.K.;
Hoffmann, G.F.

Publication type:

Article

The role of vitamins in the pathogenesis and treatment of hyperhomocyst(e)inaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 316, doi. 10.1023/A:1005329427711

By:

Ubbink, J.

Publication type:

Article

Putative mechanisms for vascular damage by homocysteine.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 307, doi. 10.1023/A:1005377310872

By:

Bellamy, M.;
McDowell, I.

Publication type:

Article

The case for mild hyperhomocysteinaemia as a risk factor.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 301, doi. 10.1023/A:1005325326802

By:

Boers, G.

Publication type:

Article

The natural history of vascular disease in homocystinuria and the effects of treatment.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 295, doi. 10.1023/A:1005373209964

By:

Wilcken, D.;
Wilcken, B.

Publication type:

Article

Assessment of homocysteine status.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 286, doi. 10.1023/A:1005321225893

By:

Refsum, H.;
Fiskerstrand, T.;
Guttormsen, A.;
Ueland, P.

Publication type:

Article

Disorders of homocysteine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 270, doi. 10.1023/A:1005369109055

By:

Fowler, B.

Publication type:

Article

Erythropoietic protoporphyria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 258, doi. 10.1023/A:1005317124985

By:

Cox, T.

Publication type:

Article

Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 247, doi. 10.1023/A:1005365008147

By:

Mazurier, F.;
Moreau-Gaudry, F.;
Salesse, S.;
Barbot, C.;
Ged, C.;
Reiffers, J.;
de Verneuil, H.

Publication type:

Article

Hepatic porphyrias in children.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 237, doi. 10.1023/A:1005313024076

By:

Elder, G.

Publication type:

Article

Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 227, doi. 10.1023/A:1005360907238

By:

Duran, M.;
Dorland, L.;
Meuleman, E.;
Allers, P.;
Berger, R.

Publication type:

Article

When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 214, doi. 10.1023/A:1005308923168

By:

Simmonds, H.;
Duley, J.;
Fairbanks, L.;
McBride, M.

Publication type:

Article

Inborn errors of pyrimidine degradation: Clinical, biochemical and molecular aspects.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 203, doi. 10.1023/A:1005356806329

By:

van Gennip, A.H.;
Abeling, N.G.G.M.;
Vreken, P.;
van Kuilenburg, A.B.P.

Publication type:

Article

Inborn errors of the purine nucleotide cycle: Adenylosuccinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 193, doi. 10.1023/A:1005304722259

By:

Van den Berghe, G.;
Vincent, M.;
Jaeken, J.

Publication type:

Article

Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 186, doi. 10.1023/A:1005352605421

By:

Gross, M.

Publication type:

Article

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 179, doi. 10.1023/A:1005300621350

By:

Hershfield, M.;
Arredondo-Vega, F.;
Santisteban, I.

Publication type:

Article

The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 171, doi. 10.1023/A:1005348504512

By:

Nyhan, W.

Publication type:

Article

Myotonic dystrophy: Molecular and cellular consequences of expanded DNA repeats are elusive.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 159, doi. 10.1023/A:1005396420442

By:

Strong, P.;
Brewster, B.

Publication type:

Article

Kennedy disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 152, doi. 10.1023/A:1005344403603

By:

Fischbeck, K.

Publication type:

Article

The fragile X syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 139, doi. 10.1023/A:1005392319533

By:

Hoogeveen, A.;
Oostra, B.

Publication type:

Article

Huntington disease: Advances in molecular and cell biology.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 125, doi. 10.1023/A:1005340302695

By:

Jones, A.;
Wood, J.;
Harper, P.

Publication type:

Article

Trinucleotide repeat disorders.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 122, doi. 10.1023/A:1005388218625

By:

Harper, P.

Publication type:

Article

Inborn errors of signal transduction: Mutations in G proteins and G protein-coupled receptors as a cause of disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 2, p. 113, doi. 10.1023/A:1005393501786

By:

Spiegel, A.

Publication type:

Article