Ausgabe 4/2005
Inhalt (21 Artikel)
Frontal lobe-dependent functions in treated phenylketonuria: Blood phenylalanine concentrations and long-term deficits in adolescents young adults
R. Feldmann, J. Denecke, M. Grenzebach, J. Weglage
Breastfeeding experience in inborn errors of metabolism other than phenylketonuria
G. Huner, T. Baykal, F. Demir, M. Demirkol
Elevated plasma citrulline and arginine due to consumption of Citrullus vulgaris (watermelon)
H. Mandel, N. Levy, S. Izkovitch, S. H. Korman
A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
Y. H. Gu, H. Kodama, K. Shiga, S. Nakata, Y. Yanagawa, H. Ozawa
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism
R. Horváth, P. Freisinger, R. Rubio, T. Merl, R. Bax, J. A. Mayr, Shawan, J. Müller-Höcker, D. Pongratz, L. B. Moller, N. Horn, M. Jaksch
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats
R. B. Rosa, P. F. Schuck, D. R. de Assis, A. Latini, K. B. Dalcin, C. A. J. Ribeiro, G. da C. Ferreira, R. C. Maria, G. Leipnitz, M. L. S. Perry, C. S. Dutra Filho, A. T. S. Wyse, C. M. D. Wannmacher, M. Wajner
Management of methylmalonic acidaemia by combined liver–kidney transplantation
S. Nagarajan, G. M. Enns, M. T. Millan, S. Winter, M. M. Sarwal
OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria
K. Neas, B. Bennetts, K. Carpenter, R. White, E. P. Kirk, M. Wilson, R. Kelley, I. Baric, J. Christodoulou
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency
S. E. Olpin, S. Clark, B. S. Andresen, C. Bischoff, R. K. J. Olsen, N. Gregersen, A. Chakrapani, M. Downing, N. J. Manning, M. Sharrard, J. R. Bonham, F. Muntoni, D. N. Turnbull, M. Pourfarzam
Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects
M. F. Browning, C. Larson, A. Strauss, D. L. Marsden
Newborns with C8-acylcarnitine level over the 90th centile have an increased frequency of the common MCAD 985A>G mutation
B. Blois, C. Riddell, K. Dooley, S. Dyack
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
B. T. van Maldegem, H. R. Waterham, M. Duran, M. van der Vlies, C. S. van Woerden, L. L. Bobu, R. J. A. Wanders, F. A. Wijburg
Impaired myocardial perfusion reserve but preserved peripheral endothelial function in patients with Fabry disease
R. J. Kalliokoski, K. K. Kalliokoski, J. Sundell, E. Engblom, M. Penttinen, I. Kantola, O. T. Raitakari, J. Knuuti, P. Nuutila
Enzyme replacement therapy in Japanese Fabry disease patients: The results of a phase 2 bridging study
Y. Eto, T. Ohashi, Y. Utsunomiya, M. Fujiwara, A. Mizuno, K. Inui, N. Sakai, T. Kitagawa, Y. Suzuki, S. Mochizuki, M. Kawakami, T. Hosoya, M. Owada, H. Sakuraba, H. Saito
Evaluation of three biochemical markers in the monitoring of Gaucher disease
A. Vellodi, Y. Foo, T. J. Cole
Orthotopic liver transplantation from a living-related donor in an infant with a peroxisome biogenesis defect of the infantile Refsum disease type
L. Van Maldergem, A. B. Moser, M.-F. Vincent, D. Roland, R. Reding, J.-B. Otte, R. J. Wanders, E. Sokal
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
S. Bekri, G. Armana, D. De Ricaud, M. Osenda, I. Maire, E. Van Obberghen, R. Froissart
Clinical response to sildenafil in pulmonary hypertension associated with Gaucher disease
C. J. C. Fernandes, C. Jardim, L. A. S. Carvalho, A. Q. Farias, M. Terra Filho, R. Souza
Absolute configuration of N-acetylaspartate in urine from patients with Canavan disease
D. Bal, A. Gryff-Keller, W. Gradowska