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Journal of Inherited Metabolic Disease

Ausgabe 3/1999

Inhalt (31 Artikel)

Cerebrospinal fluid nitrite plus nitrate correlates with tetrahydrobiopterin concentration

S. J. R. Heales, L. Canevari, M. P. Brand, J. B. Clark, J. M. Land, K. Hyland

Pyroglutamic aciduria and nephropathic cystinosis

C. Rizzo, A. Ribes, A. Pastore, C. Dionisi-Vici, M. Greco, G. Rizzoni, G. Federici

Cystinylglycinuria: A new neurometabolic disorder?

H. Bellet, F. Rejou, C. Vallat, H. Mion, A. Dimeglio

Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

N. G. G. M. Abeling, A. H. van Gennip, H. Blom, R. A. Wevers, P. Vreken, H. L. G. van Tinteren, H. D. Bakker

Decreased circulating plasma lipids in patients with homocystinuria

S. J. Moat, J. R. Bonham, J. C. Allen, H. J. Powers, I. F. W. McDowell

What is the origin of 3-methylglutaconic acid?

R. Walsh, H. Conway, G. Roche, P. D. Mayne

3-Hydroxyglutaric and glutaric acids are neurotoxic through NMDA receptors in vitro

S. Kölker, B. Ahlemeyer, J. Krieglstein, G. F. Hoffmann

Prenatal diagnosis of Canavan disease — Problems and dilemmas

G. T. N. Besley, O. N. Elpeleg, A. Shaag, N. J. Manning, C. Jakobs, J. H. Walter

Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

C. Costa, J. M. Costa, J. M. Nuoffer, A. Slama, A. Boutron, J. M. Saudubray, A. Legrand, M. Brivet

Carnitine-acylcarnitine translocase deficiency is a treatable disease

A. I. Al Aqeel, M. S. Rashed, R. J. A. Wanders

Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

C. O. Harding, M. B. Gillingham, S. C. van Calcar, J. A. Wolff, J. N. Verhoeve, M. D. Mills

DNA-based prenatal diagnosis for very-long- chain acyl-CoA dehydrogenase deficiency

B. S. Andresen, S. Olpin, E. A. Kvittingen, P. Augoustides-Savvopoulou, D. Lindhout, D. J. J. Halley, C. Vianey-Saban, R. J. A. Wanders, L. IJlst, L. D. Schroeder, L. Bolund, N. Gregersen

Adsorption of small hydroxy acids on glass: A pitfall in quantitative urinary organic acid analysis by GC-MS

A. A. J. van Landeghem, Y. T. J. Somers-Pijnenburg, W. J. H. M. Somers, C. Stokwielder, W. de Bruyn, G. B. van den Berg

Rapid analysis of conjugated bile acids in plasma using electrospray tandem mass spectrometry: Application for selective screening of peroxisomal disorders

A. H. Bootsma, H. Overmars, A. van Rooij, A. E. M. van Lint, R. J. A. Wanders, A. H. van Gennip, P. Vreken

Molecular basis of Sjögren-Larsson syndrome: Frequency of the 1297–1298 del GA and 943C→T mutation in 29 patients

L. IJlst, W. Oostheim, M. van Werkhoven, M. A. A. P. Willemsen, R. J. A. Wanders

Molecular study of spinal muscular atrophy patients with hybrid genes in Bulgaria

I. Kremensky, S. Jankova, E. Bochukova, M. Uzunova, I. Litvinenko, A. Jordanova

Glycogen storage disease type IV presenting as hydrops fetalis

A. Alegria, E. Martins, M. Dias, A. Cunha, M. L. Cardoso, I. Maire

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