Ausgabe 2/2007
Inhalt (25 Artikel)
Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
T. Ohura, K. Kobayashi, Y. Tazawa, D. Abukawa, O. Sakamoto, S. Tsuchiya, T. Saheki
Phenylketonuria: Dietary and therapeutic challenges
M. Giovannini, E. Verduci, E. Salvatici, L. Fiori, E. Riva
Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine
R. Matalon, K. Michals-Matalon, G. Bhatia, A. B. Burlina, A. P. Burlina, C. Braga, L. Fiori, M. Giovannini, E. Grechanina, P. Novikov, J. Grady, S. K. Tyring, F. Guttler
Glycogen storage disease types I and II: Treatment updates
D. D. Koeberl, P. S. Kishnani, Y. T. Chen
International Morquio A Registry: Clinical manifestation and natural course of Morquio A disease
A. M. Montaño, S. Tomatsu, G. S. Gottesman, M. Smith, T. Orii
Enzyme, cell and gene-based therapies for metachromatic leukodystrophy
C. Sevin, P. Aubourg, N. Cartier
Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry
C. M. Eng, J. Fletcher, W. R. Wilcox, S. Waldek, C. R. Scott, D. O. Sillence, F. Breunig, J. Charrow, D. P. Germain, K. Nicholls, M. Banikazemi
A practical approach to maternal phenylketonuria management
F. Maillot, P. Cook, M. Lilburn, P. J. Lee
Peak bone mass in patients with phenylketonuria
D. Modan-Moses, I. Vered, G. Schwartz, Y. Anikster, S. Abraham, R. Segev, Ori Efrati
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
V. Leuzzi, M. Tosetti, D. Montanaro, C. Carducci, C. Artiola, C. Carducci, I. Antonozzi, M. Burroni, F. Carnevale, F. Chiarotti, T. Popolizio, G. M. Giannatempo, V. D’Alesio, T. Scarabino
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential
J. A. Arranz, E. Riudor, C. Marco-Marín, V. Rubio
Clinical response to persistent, low-level β-glucuronidase expression in the murine model of mucopolysaccharidosis type VII
A. Donsante, B. Levy, C. Vogler, M. S. Sands
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations
K. Widhalm, A. Dirisamer, A. Lindemayr, G. Kostner
Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase
M. Christensen, M. Duno, A. M. Lund, F. Skovby, E. Christensen
Tetrahydrobiopterin availability, nitric oxide metabolism and glutathione status in the hph-1 mouse; implications for the pathogenesis and treatment of tetrahydrobiopterin deficiency states
A. A. J. Lam, K. Hyland, S. J. R. Heales
Social outcome in adults with maple syrup urine disease (MSUD)
E. Simon, M. Schwarz, U. Wendel
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome
Y. Zhang, Y. L. Yang, F. Sun, X. Cai, N. Qian, Y. Yuan, Z. X. Wang, Y. Qi, J. X. Xiao, X. Y. Wang, Y. H. Zhang, Y. W. Jiang, J. Qin, X. R. Wu
Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation
R. Spiegel, A. Shaag, A. Gutman, S. H. Korman, A. Saada, O. Elpeleg, S. A. Shalev
Secondary alteration of the transferrin isoelectric focusing pattern in a case of bacterial meningitis
E. Quintana, S. Gala, A. García-Cazorla, R. Montero, C. Muñoz-Almagro, M. A. Vilaseca, P. Briones, R. Artuch
Detection of familial combined hyperlipoproteinaemia patients in the Brisighella Heart Study historical cohort: An epidemiological approach
A. F. G. Cicero, M. Manca, M. Bove, A. Dormi, C. Borghi, A. V. Gaddi
Sacral dimple as a skin manifestation of the Smith–Lemli–Opitz syndrome
V. Bzduch, D. Behulova, L. Kozak