Issue 7/2001
Content (8 Articles)
Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia
C. J. Wilson, P. J. Lee, J. V. Leonard
Cerebrotendinous xanthomatosis: Heterogeneity of clinical phenotype with evidence of previously undescribed ophthalmological findings
M. T. Dotti, A. Rufa, A. Federico
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
E. Pronicka, D. H. Piekutowska-Abramczuk, E. Popowska, M. Pronicki, E. Karczmarewicz, Y. Sykut-Cegielskâ, J. Taybert
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes
C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, A. Gal, S. Bunge, M. Beck
Detection of β-ureidopropionase deficiency with HPLC–electrospray tandem mass spectrometry and confirmation of the defect at the enzyme level
A. B. P. Van Kuilenburg, H. Van Lenthe, B. Assmann, G. Göhlich-Ratmann, G. F. Hoffmann, C. Bräutigam, R. A. Wevers, A. H. Van Gennip
Self-rated psychosocial consequences and quality of life in the acute porphyrias
L. M. Millward, P. Kelly, A. Deacon, V. Senior, T. J. Peters
A family study of congenital malabsorption of folate
S. Jebnoun, S. Kacem, Ch. Mokrani, A. Chabchoub, N. Khrouf, J. Zittoun
Prospects in the Treatment of Rare Diseases 2nd International Conference Trieste, Italy, 23–26 May 2001
Bruno Bembi