Ausgabe 7/1999
Inhalt (18 Artikel)
Transcobalamin II deficiency with methylmalonic aciduria in three sisters
H. Bibi, Z. Gelman-Kohan, E. R. Baumgartner, D. S. Rosenblatt
Successful pregnancy in severe methylmalonic acidaemia
M. P. Wasserstein, S. Gaddipati, S. E. Snyderman, K. Eddleman, R. J. Desnick, C. Sansaricq
Nutritional deficiencies in a patient with glycogen storage disease type Ib
P. S. Kishnani, A. Boney, Y.-T. Chen
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency
B. Merinero, S. I. Pascual Pascual, C. Pérez-Cerdá, J. Gangoiti, M. Castro, M. J. Garcia, I. Pascual Castroviejo, C. Vianey-Saban, B. Andresen, N. Gregersen, M. Ugarte
Urinary organic acid screening in children with developmental language delay
M. Michelson, S. Harel, A. Gutman, T. Lerman-Sagie
Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen
O. A. Mamer, L. Choiniere, D. Boismenu, F. Lepine
Muscle carnitine acetyltransferase and carnitine deficiency in a case of mitochondrial encephalomyopathy
B. Melegh, L. Seress, T. Bedekovics, G. Kispál, B. Sümegi, K. Trombitás, K. Méhes
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Neonatal manifestation at the first day of life presenting with tachypnoea
C. Thiel, S. Baudach, U. Schnackenberg, P. Vreken, R. J. A. Wanders
False negative thiosulphate screening test in a case of molybdenum cofactor deficiency
F. M. Carragher, J. M. Kirk, C. Steer, J. Allen, C. Dorche
A new polymorphism in the iduronate-2-sulphatase gene. Implications for the diagnosis of Hunter disease
L. Gort, A. Chabás, M. J. Coll
Eighteen novel mutations in patients with Lesch–Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
I. Willers, H. Bolz, M. Wehnert, A. Gal
Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease
M. A. Al-Essa, S. M. Bakheet, Z. J. Patay, J. E. Powe, P. T. Ozand
Mutation analysis of the propionyl-CoA carboxylase α-subunit gene in four Japanese patients with propionic acidaemia
T. Ohura, K. Narisawa, K. Iinuma