Ausgabe 5/1999
Inhalt (23 Artikel)
Liver transplantation for citrullinaemia improves intellectual function
J. M. Fletcher, R. Couper, D. Moore, R. Coxon, S. Dorney
Fasting, postprandial, and post-methionine-load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular disease
M. Candito, P. Bedoucha, P. Gibelin, D. Jambou, R. de Franchis, J.-L. Sadoul, M. Chatel, E. Van Obberghen
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease
M. Di Rocco, U. Caruso, I. Moroni, S. Lupino, E. Lamantea, A. R. Fantasia, C. Borrone, K. M. Gibson
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin
G. M. Enns, A. J. Barkovich, D. S. Rosenblatt, D. R. Fredrick, K. Weisiger, C. Ohnstad, S. Packman
Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNALeu(UUR) gene mutation
S. Saitoh, M. Y. Momoi, T. Yamagata, H. Nakauchi, K. Nihei, M. Fujii
Personality profiles of mothers of children with mitochondrial disorders
L. Varvogli, S. E. Waisbren
Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators
L. Madar-Shapiro, M. Pasmanik-Chor, T. Dinur, A. Dagan, S. Gatt, M. Horowitz
Long-term follow-up following bone marrow transplantation for Hunter disease
A. Vellodi, E. Young, A. Cooper, V. Lidchi, B. Winchester, J. E. Wraith
Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease
J. Tohyama, Y. Oya, T. Ezoe, M. T. Vanier, H. Nakayasu, N. Fujita, K. Suzuki
Recurrent rhabdomyolysis in a child with glutaric aciduria type I
C. J. Wilson, J. E. Collins, J. V. Leonard
NTBC as palliative treatment in chronic tyrosinaemia type I
J. Ros, M. A. Vilaseca, N. Lambruschini>, A. Mas, S. Lindstedt, E. Holme
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites
M. Claeys, M. Van Der Hoeven, C. de Die-Smulders>, J. A. Bakker, J. P. M. Offermans, P-Ph. Forget, J. E. M. Groener, L. J. M. Spaapen
A case with early infantile form of galactosialidosis with unusual haematological findings
G. Tekinalp, D. Aliefendioğlu, A. Yüce, M. çağlar, M. Beck
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from Southern Italy
D. Seripa, C. Gravina, R. Volpe, M. Margaglione, S. Papa, G. Merla, P. Parrella, G. Di Minno, G. Ricci, M. Testa, V. M. Fazio
Ornithine carbamoyltransferase deficiency: Unusual clinical findings and novel mutation
V. E. Shih, A. P. Safran, A. H. Ropper, M. Tuchman
Is the common 844ins68 polymorphism in the cystathionine β-synthase gene associated with atherosclerosis?
M. Orendáč, B. Mušková, E. Richterová, J. Zvárová, M. Štefek, E. Zaykova, J. P. Kraus, J. Stříbrný, J. Hyánek, V. Kožich
An 84bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA
T. Ohura, K. Narisawa, K. Tada, K. Iinuma
Molecular characterization of Polish patients with classical galactosaemia
C. Żdekanowski, B. Radomyska, J. Bal
A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping
M. B. Coulter-Mackie