Ausgabe 1/1997
Inhalt (17 Artikel)
Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp
S. E. Waisbren, H. Rokni, I. Bailey, F. Rohr, T. Brown, J. Warner-Rogers
Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose-response relationship
G. L. Arnold, M. L. Griebel, J. L. Valentine, D. M. Koroma, G. L. Kearns
Succinic semialdehyde dehydrogenase deficiency: low excretion of metabolites in a neonate
J. J. Pitt, R. Hawkins, M. Cleary, M. Eggington, D. R. Thorburn, L. Warwick
Severe lactic acidosis and neonatal death in Pearson syndrome
K. Muraki, Y. Goto, I. Nishino, M. Hayashidani, S. Takeuchi, S. Horai, N. Sakura, K. Ueda
A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues
F. Degoul, D. François, M. Diry, G. Ponsot, I. Desguerre, B. Héron, C. Marsac, M.L. Moutard
Decreased platelet membrane anisotropy in patients with adrenoleukodystrophy treated with erucic acid (22:1)-rich triglycerides
S. Stöckler, C. Opper, A. Greinacher, D. H. Hunneman, G. C. Korenke, C. J. Unkrig, F. Hanefeld
Progression of X-linked adrenoleukodystrophy under interferon-β therapy
G. C. Korenke, H.-J. Christen, B. Kruse, D. H. Hunneman, F. Hanefeld
Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations
H. Ida, O. M. Rennert, H. Kawame, K. Maekawa, Y. Eto
Accumulation of sphingolipid activator proteins (SAPs) A and D in granular osmiophilic deposits in miniature Schnauzer dogs with ceroid-lipofuscinosis
D. N. Palmer, J. Tyynelä, H. C. van Mil, V. J. Westlake, R. D. Jolly
5α-Reductase deficiency in patients with micropenis
Y. Z. Gad, H. Nasr, I. Mazen, N. Salah, R. El-Ridi
Leigh syndrome resulting from de novo mutation at position 8993 of mitochodrial DNA
A. Seller, C. R. Kennedy, I. K. Temple, G. K. Brown
Pyrimidine metabolism in hereditary orotic aciduria
S. Sumi, M. Suchi, K. Kidouchi, H. Morishita, S. Ohba, Y. Wada
An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy
L. K. Law, C. Y. Lau, C. P. Pang, W. Y. Lam, L. Sweetman, T. F. Fok, M. Hjelm
Mutational analysis of two frequently observed lipoprotein lipase gene variants in the Japanese population
H. Wiebusch, H. Funke, K. Saku, K. Arakawa, G. Assmann