Issue 1/2008
Content (15 Articles)
Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation
Claude Bachmann
Alpha-1 antitrypsin deficiency: A conformational disease associated with lung and liver manifestations
C. M. Greene, S. D. W. Miller, T. Carroll, C. McLean, M. O’Mahony, M. W. Lawless, S. J. O’Neill, C. C. Taggart, N. G. McElvaney
Neurodegeneration and chronic renal failure in methylmalonic aciduria—A pathophysiological approach
M. A. Morath, J. G. Okun, I. B. Müller, S. W. Sauer, F. Hörster, G. F. Hoffmann, S. Kölker
Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
S. R. Mirandola, D. R. Melo, P. F. Schuck, G. C. Ferreira, M. Wajner, R. F. Castilho
Methylmalonic acidaemia: Examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group
B. Merinero, B. Pérez, C. Pérez-Cerdá, A. Rincón, L. R. Desviat, M. A. Martínez, P. Ruiz Sala, M. J. García, L. Aldamiz-Echevarría, J. Campos, V. Cornejo, M. del Toro, A. Mahfoud, M. Martínez-Pardo, R. Parini, C. Pedrón, L. Peña-Quintana, M. Pérez, M. Pourfarzam, M. Ugarte
Classifying tetrahydrobiopterin responsiveness in the hyperphenylalaninaemias
U. Langenbeck
Comparison of tetrahydrofuran and ethyl acetate as extraction solvents for urinary organic acid analysis
Gy. Wittmann, E. Karg, A. Mühl, O. A. Bodamer, S. Túri
NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients
A. Masurel-Paulet, J. Poggi-Bach, M.-O. Rolland, O. Bernard, N. Guffon, D. Dobbelaere, J. Sarles, H. Ogier de Baulny, G. Touati
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency
T. G. J. Derks, T. S. Boer, A. van Assen, T. Bos, J. Ruiter, H. R. Waterham, K. E. Niezen-Koning, R. J. A. Wanders, J. M. M. Rondeel, J. G. Loeber, L. P. ten Kate, G. P. A. Smit, D.-J. Reijngoud
A yeast model reveals biochemical severity associated with each of three variant alleles of galactose-1P uridylyltransferase segregating in a single family
J. S. Chhay, K. K. Openo, J. S. Eaton, M. Gentile, J. L. Fridovich-Keil
Analysis of UDP-galactose 4′-epimerase mutations associated with the intermediate form of type III galactosaemia
J. S. Chhay, C. A. Vargas, T. J. McCorvie, J. L. Fridovich-Keil, D. J. Timson
Correlation between interleukin-6 promoter and C-reactive protein (CRP) polymorphisms and CRP levels with the Mainz Severity Score Index for Fabry disease
G. Altarescu, G. Chicco, C. Whybra, S. Delgado-Sanchez, N. Sharon, M. Beck, D. Elstein
Pancreatic calcification in a patient with homocystinuria
R. Ramachandran, P. J. Lee