Ausgabe 7/2002
Inhalt (12 Artikel)
Emergency management of inherited metabolic diseases
V. Prietsch, M. Lindner, J. Zschocke, W. L. Nyhan, G. F. Hoffmann
Glucose-free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test
D. L. Renaud, V. Edwards, G. J. Wilson, I. Tein
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
B. J. Zeng, Z. H. Wang, L. A. Ribeiro, P. Leone, R. De Gasperi, S. J. Kim, S. Raghavan, E. Ong, G. M. Pastores, E. H. Kolodny
Simple method for detection of mutations causing hereditary fructose intolerance
C. Kullberg-Lindh, C. Hannoun, M. Lindh
Glutathione synthetase deficiency: Is γ-glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
E. Ristoff, C. Hebert, R. Njålsson, S. Norgren, O. Rooyackers, A. Larsson
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease
T. Muramatsu, N. Sakai, I. Yanagihara, M. Yamada, T. Nishigaki, C. Kokubu, H. Tsukamoto, M. Ito, K. Inui
Pamidronate treatment of severe osteogenesis imperfecta in a newborn infant
Y.-H. Chien, S.-Y. Chu, C.-C. Hsu, W.-L. Hwu
Newborn screening compared to clinical identification of biochemical genetic disorders
S. E. Waisbren, C. Y. Read, M. Ampola, T. G. Brewster, L. Demmer, R. Greenstein, C. L. Ingham, M. Korson, M. Msall, S. Pueschel, M. Seashore, E. Shih, H. L. Levy
G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family
H. Orimo, Y. S. Shin, T. Shimada
Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)
L. D. Fairbanks, A. M. Marinaki, E. A. Carrey, S. R. Hammans, J. A. Duley