Ausgabe 6/1998
Inhalt (21 Artikel)
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme
J. E. Abdenur, N. A. Chamoles, A. E. Guinle, A. B. Schenone, A. N. J. Fuertes
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
K. M. Gibson, R. S. Wappner, S. Jooste, E. Erasmus, L. J. Mienie, E. Gerlo, B. Desprechins, L. De Meirleir
Methylmalonic acidaemia with bilateral globus pallidus involvement: A neuropathological study
A. Larnaout, M. A. Mongalgi, N. Kaabachi, D. Khiari, A. Debbabi, A. Mebazza, M. Ben Hamida, F. Hentati
Lactic acidosis in long-chain fatty acid β-oxidation disorders
F. V. Ventura, J. P. N. Ruiter, L. IJlst, I. Tavares de Almeida, R. J. A. Wanders
Hunter disease in the Spanish population: Molecular analysis in 31 families
L. Gort, A. Chabás, M. J. Coll
Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n−3 fatty acids
O. Søvik, J.-E. Månsson, A.-L. Bjørke Monsen, E. Jellum, R. K. Berge
Hyperinsulinism and hyperammonaemia
L. Al-Shamsan, M. Al-Essa, A. Al-Mutair, A. Al-Ashwal, N. Sakati, P. T. Ozand
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels
E. Riudor, J. A. Arranz, R. Anguera, S. Salcedo, M. Roig, M. del Toro, C. Bahima, G. Martínez, A. Ribes, C. Vianey-Saban, M. Sentís
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs
M. Di Rocco, A. Buoncompagni, P. Picco, S. Vignola, C. Borrone
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis
L. Olcay, F. Gümrük, K. Boduroğlu, T. Coşkun, E. Tunçbilek
Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome
T. J. de Koning, M. Toet, L. Dorland, L. S. de Vries, I. E. T. van den Berg, M. Duran, B. T. Poll-The
3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance
M. H. Holtmann, P. R. Galle, W. Stremmel, E. Mayatepek
A family with Leigh syndrome caused by the rarer T8993C mutation
A. Chakrapani, L. Heptinstall, J. Walter
Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies
M. O. Rolland, N. Guffon, G. Mandon, P. Divry
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene
C. J. Fleming, D. U. Sinclair, E. J. White, B. Winchester, M. L. Whiteford, J. M. Connor
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene
P. Goyette, D. Rosenblatt, R. Rozen
In vivo methods useful for therapy monitoring in lactic acidosis
A. Schulze, E. Mayatepek, C. D. Langhans, P. Bachert, W. Ruitenbeek, D. Rating
Medium-chain acyl-CoA dehydrogenase deficiency in Spain
G. Martínez, A. Ribes, P. Briones, M. Rodés, A. Baldellou, M. Pineda, C. Rodrigo, I. Lorente, M. T. García-Silva, E. Riudor, P. Jaraba, J. Lopez-Casas, A. Nuñez-Roldan
MS-PCR assay to detect 677C→T mutation in the 5,10-methylenetetrahydrofolate reductase gene
A. E. Hill, D. R. FitzPatrick