Issue 2/2005
Content (16 Articles)
Increased NO production in lysinuric protein intolerance
L. Mannucci, F. Emma, M. Markert, C. Bachmann, O. Boulat, R. Carrozzo, G. Rizzoni, C. Dionisi-Vici
Hyperinsulinism in tyrosinaemia type I
U. Baumann, M. A. Preece, A. Green, D. A. Kelly, P. J. McKiernan
Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency
R. Santer, G. Gokçay, M. Demirkol, A. Gal, Z. Lukacs
L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study
P. J. Lee, E. L. Harrison, M. G. Jones, S. Jones, J. V. Leonard, R. A. Chalmers
Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
L. M. Franco, V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, J. Sullivan, D. P. Frush, Y.-T. Chen, P. S. Kishnani
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency
N. M. Verhoeven, M. Wallot, J. H. J. Huck, O. Dirsch, A. Ballauf, U. Neudorf, G. S. Salomons, M. S. van der Knaap, T. Voit, C. Jakobs
Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome
D. Babovic-Vuksanovic, R. M. Jacobson, N. M. Lindor, C. R. Weiler
Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses
S. Tomatsu, K. Okamura, H. Maeda, T. Taketani, S. V. Castrillon, M. A. Gutierrez, T. Nishioka, A. A. Fachel, K. O. Orii, J. H. Grubb, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. Schulze Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, M. Haskins, K. Isogai, Y. Suzuki, T. Orii, N. Kondo, M. Creer, T. Okuyama, A. Tanaka, A. Noguchi
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
H. Pavlů-Pereira, B. Asfaw, H. Poupčtová, J. Ledvinová, J. Sikora, M. T. Vanier, K. Sandhoff, J. Zeman, Z. Novotná, D. Chudoba, M. Elleder
Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome
T. Baykal, G. Huner Gokcay, Z. Ince, M. F. Dantas, B. Fowler, M. R. Baumgartner, F. Demir, G. Can, M. Demirkol
Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency
L. Mrázová, T. Fukao, K. Hálovd, E. Gregová, V. Kohút, D. Přibyl, P. Chrastina, N. Kondo, E. Pospišilová
Ornithine transcarbamylase deficiency in pregnancy
D. R. Cordero, J. Baker, D. Dorinzi, R. Toffle
N-Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia
B. Gebhardt, S. Dittrich, S. Parbel, S. Vlaho, O. Matsika, H. Bohles