Ausgabe 6/2004
Inhalt (37 Artikel)
Frontmatter
Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers'
W. B. Hanley, C. Azen, R. Koch, K. Michals-Matalon, R. Matalon, B. Rouse, F. Trefz, S. Waisbren, F. de la Cruz
NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic
D. Melis, A. C. Havelaar, E. Verbeek, G. P. A. Smit, A. Benedetti, G. M. S. Mancini, F. Verheijen
Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome-c oxidase deficiency
C. P. Venditti, M. C. Harris, D. Huff, I. Peterside, D. Munson, H. S. Weber, J. Rome, E. M. Kaye, S. Shanske, S. Sacconi, S. Tay, S. DiMauro, G. T. Berry
Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants
J. O. Sass, S. Sander, J. Zschocke
Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit
İ. Sinici, M. B. Tropak, D. J. Mahuran, H. A. Özkara
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease
D. Elstein, C. Hollak, J. M. F. G. Aerts, S. van Weely, M. Maas, T. M. Cox, R. H. Lachmann, M. Hrebicek, F. M. Platt, T. D. Butters, R. A. Dwek, A. Zimran
Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations
M. Bertelli, D. Randi, V. Micheli, S. Gallo, G. Andrighetto, P. Parmigiani, G. Jacomelli, M. Carella, C. Lievore, M. Pandolfo
Two successful pregnancies in pyridoxine-nonresponsive homocystinuria
M. A. Vilaseca, M. L. Cuartero, M. Martinez de Salinas, N. Lambruschini, X. Pintó, R. Urreizti, S. Balcells, D. Grinberg
Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy
N. Makhseed, H.D. Vallance, M. Potter, P.J. Waters, L.T.K. Wong, Y. Lillquist, M. Pasquali, C. Amat di San Filippo, N. Longo
Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry
T. Baykal, I. Karaaslan, G. Gokcay, F. Demir, Y. Laleli, M. Demirkol
S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency
J. G. Okun, S. Sauer, S. Bähr, H. Lenhartz, E. Mayatepek
Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients
Y. Wakutani, H. Nakayasu, T. Takeshima, M. Adachi, M. Kawataki, K. Kihira, H. Sawada, M. Bonno, H. Yamamoto, K. Nakashima
Stability of malonylcarnitine and glutarylcarnitine in stored blood spots
D. W. Johnson, M.-U. Trinh>
Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy
D. J. Cartwright, A. L. Cole, A. J. Cousins, P. J. Lee
Proceedings in Glutaryl-CoA Delhydrogenase Deficiency
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency
S. KÖlker, D. M. Koeller, S. Sauer, F. HÖrster, M. A. Schwab, G. F. Hoffmann, K. Ullrich, J. G. Okun
Animal models for glutaryl-CoA dehydrogenase deficiency
D. M. Koeller, S. Sauer, M. Wajner, C. F. de Mello, S. I. Goodman, M. Woontner, C. Mühlhausen, J. G. Okun, S. KÖlker
Preliminary attempts to establish a rat model of striatal injury in glutaric acidaemia type I
C. B. R. Funk, A. N. Prasad, M. R. Del Bigio
Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency
M. Wajner, S. KÖlker, D. O. Souza, G. F. Hoffmann, C. F. de Mello
Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
C. Mühlhausen, S. Ergün, K. A. Strauss, D. M. Koeller, L. Crnic, M. Woontner, S. I. Goodman, K. Ullrich, T. Braulke
Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis
S. Varadkar, R. Surtees
Challenges for basic research in glutaryl-CoA dehydrogenase deficiency
S. KÖlker, K. A. Strauss, S. I. Goodman, G. F. Hoffmann, J. G. Okun, D. M. Koeller
Neonatal screening for glutaryl-CoA dehydrogenase deficiency
M. Lindner, S. KÖlker, A. Schulze, E. Christensen, C. R. Greenberg, G. F. Hoffmann
Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency
E. Christensen, A. Ribes, B. Merinero, J. Zschocke
Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency)
E. Neumaier-Probst, I. Harting, A. Seitz, C. Ding, S. Kolker
Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency
O. A. Bodamer, S. Gruber, S. StÖckler-Ipsiroglu
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
C. Mühlhausen, G. F. Hoffmann, K. A. Strauss, S. KÖlker, J. G. Okun, C. R. Greenberg, E. R. Naughten, K. Ullrich
Emergency treatment in glutaryl-CoA dehydrogenase deficiency
S. KÖlker, C. R. Greenberg, M. Lindner, E. Müller, E. R. Naughten, G. F. Hoffmann
Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options
A. P. Burlina, G. Zara, G. F. Hoffmann, J. Zschocke, A. B. Burlina
Glutaric aciduria type I: Outcome in the Republic of Ireland
E. R. Naughten, P. D. Mayne, A. A. Monavari, S. I. Goodman, G. Sulaiman, D. T. Croke
Looking forward—An evidence-based approach to glutaryl-CoA dehydrogenase deficiency
S. KÖlker, P. Burgard, J. G. Okun, A. Schulze-Bergkamen, B. Assmann, C. R. Greenberg, G. F. Hoffmann