Ausgabe 2/1999
Inhalt (23 Artikel)
Successful pregnancy outcome in a woman with argininosuccinate lyase deficiency
M. R. Mardach, K. Roe, S. D. Cederbaum
4,5-Dimethyl-3-hydroxy-2[5H]-furanone (sotolone) — The odour of maple syrup urine disease
F. Podebrad, M. Heil, S. Reichert, A. Mosandl, A. C. Sewell, H. Böhles
Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy
E. Touma, T. Suormala, E. R. Baumgartner, B. Gerbaka, H. Ogier de Baulny, J. Loiselet
Dietary management of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). A case report and survey
M. Gillingham, S. Van Calcar, D. Ney, J. Wolff, C. Harding
Novel mutations in patients with fructose-1,6-bisphosphatase deficiency
B. Herzog, U. Wendel, A. A. M. Morris, K. Eschrich
Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations
A. C. J. Hutcheson, C. Murdoch-Davis, A. Green, M. A. Preece, J. Allen, J. B. Holton, G. Rylance
Glycogen storage disease type 1a in three siblings with the G270V mutation
R. Parvari, J. Isam, S. W. Moses
Molecular heterogeneity of Krabbe disease
L. Fu, K. Inui, T. Nishigaki, N. Tatsumi, H. Tsukamoto, C. Kokubu, T. Muramatsu, S. Okada
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology
R. Triepels, J. Smeitink, J. Loeffen, R. Smeets, C. Buskens, F. Trijbels, L. van den Heuvel
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease
J. R. Bonham, P. Guthrie, M. Downing, J. C. Allen, M. S. Tanner, M. Sharrard, C. Rittey, J. M. Land, A. Fensom, D. O'Neill, J. A. Duley, L. D. Fairbanks
Multifocal bursitis in a patient with homozygous homocystinuria
C. Haedecke, A.-J. Anders, H. Kellner, N. Weiss
Adult Sandhoff disease presenting with chronic diarrhoea
A. Gomez-Brouchet, P. Cintas, E. Lagier, T. Voisin, M. B. Delisle, N. Fabre, G. Gérand, R. Salvayre, T. Levade
Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation
A. B. P. Van Kuilenburg, P. Vreken, D. Riva, G. Botteon, N. G. G. M. Abeling, H. D. Bakker, A. H. Van Gennip
Carbohydrate-deficient glycoprotein syndrome type 2
H. Engelhardt, M. Staudt, A. Hässler, U. Holzbach, P. Freisinger, I. Krägeloh-mann
Hormone replacement therapy in galactosaemic twins with ovarian failure and severe osteoporosis
C. Renner, S. Razeghi, M. A. Überall, P. Licht, L. Wildt, H. G. Dörr, J. Hensen, S. Schweitzer
A case of Menkes syndrome with pyloric stenosis: An effect of copper deficiency on NOS1?
S. Cunningham, P. M. Crofton, T. G. Marshall, D. R. Fitzpatrick
Succinic semialdehyde dehydrogenase deficiency in siblings: Clinical heterogeneity and response to early treatment
H. Peters, M. Cleary, A. Boneh
Muscle strength in children with medium-chain acyl-CoA dehydrogenase deficiency
J. W. H. Custers, B. T. Poll-The, M. Duran, J. B. C. de Klerk, C. S. P. M. Uiterwaal, P. J. M. Helders