Issue 2/2009
Content (20 Articles)
l-2-Hydroxyglutaric aciduria, a disorder of metabolite repair
E. Van Schaftingen, R. Rzem, M. Veiga-da-Cunha
Clinical and molecular features of mitochondrial DNA depletion syndromes
A. Spinazzola, F. Invernizzi, F. Carrara, E. Lamantea, A. Donati, M. DiRocco, I. Giordano, M. Meznaric-Petrusa, E. Baruffini, I. Ferrero, M. Zeviani
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B12
V. Valayannopoulos, L. Hubert, J. F. Benoist, S. Romano, J. B. Arnoux, D. Chrétien, J. Kaplan, F. Fakhouri, D. Rabier, A. Rötig, A. S. Lebre, A. Munnich, Y. de Keyzer, P. de Lonlay
Organelle dynamics and dysfunction: A closer link between peroxisomes and mitochondria
F. Camões, N. A. Bonekamp, H. K. Delille, M. Schrader
A data-mining approach to rank candidate protein-binding partners—The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1)
I. A. Rodriguez-Fernandez, E. C. Dell’Angelica
Tolerance to fast: rational and practical evaluation in children with hypoketonaemia
J. H. Walter
Metabolic programming: Role of nutrition in the immediate postnatal life
M. S. Patel, M. Srinivasan, S. G. Laychock
Measurement of d-2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from d-2-hydroxyglutaric aciduria patients
W. V. Wickenhagen, G. S. Salomons, K. M. Gibson, C. Jakobs, E. A. Struys
Mitochondrial cytochrome c release: a factor to consider in mitochondrial disease?
M. L. S. Oppenheim, I. P Hargreaves, S. Pope, J. M. Land, S. J. R. Heales
Different dose-dependent correction of MIP-1β and chitotriosidase during initial enzyme replacement therapy
M. J. van Breemen, M. de Fost, M. Maas, M. G. Wiersma, C. E. M. Hollak, L. W. Poll, S. vom Dahl, R. G. Boot, J. M. F. G. Aerts
Abnormal bradykinin signalling in fibroblasts deficient in the PIP2 5-phosphatase, ocrl1
S. F. Suchy, J. C. Cronin, R. L. Nussbaum
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia
N. Kyprianou, E. Murphy, P. Lee, I. Hargreaves
Proposed high-risk screening protocol for Fabry disease in patients with renal and vascular disease
C. Auray-Blais, D. S. Millington, S. P. Young, J. T. R. Clarke, R. Schiffmann
Children with cataract and chronic diarrhoea: Cerebrotendinous xanthomatosis
J. R. M. Cruysberg
Re: Neurocognitive testing in late-onset Tay–Sachs disease: A pilot study
Barbara E. Shapiro, Edwin H. Kolodny, Gregory M. Pastores, Cécile Luzy
Developmental changes of oxalate excretion in enterally fed preterm infants
S. Illsinger, T. Lücke, B. Vaske, K.-H. Schmidt, B. Bohnhorst, A. M. Das