Issue 6/1999
Content (13 Articles)
Large heterozygous deletion masquerading as homozygous missense mutation: A pitfall in diagnostic mutation analysis
J. Zschocke, E. Quak, A. Knauer, B. Fritz, M. Aslan, G. F. Hoffmann
Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence
J. Weglage, M. Pietsche, J. Denecke, A. Sprinz, R. Feldman, M. Grenzebach, K. Ullrich
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease
P. Schadewaldt, H.-W. Hammen>, A.-C. Ott, U. Wendel
Long-term outcome of liver transplantation in patients with glycogen storage disease type Ia
L. Faivre, D. Houssin, J. Valayer, J. Brouard, M. Hadchouel, O. Bernard
Medium-chain triglyceride loading test in carnitine–acylcarnitine translocase deficiency: Insights on treatment
R. Parini, F. Invernizzi, F. Menni, B. Garavaglia, D. Melotti, M. Rimoldi, S. Salera, C. Tosetto, F. Taroni
A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation
L. E. Seargeant, K. Balachandra, C. Mallory, L. A. Dilling, C. R. Greenberg
Intermittent jaundice in patients with acute leukaemia: A common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among Asians
T. Kimura, K. Akaba, T. Ikegami, K. Akiba, C. Kanazawa, M. Katsuura, Y. Shimizu, M. Imaizumi, C. Lin, K. Hayasaka
Spontaneous pregnancy in a patient with classical galactosaemia
S. de Jongh, P. Vreken, L. IJlst, R. J. A. Wanders, C. Jakobs, H. D. Bakker
Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family
P. Augoustides-Savvopoulou, I. Mylonas, A. C. Sewell, D. S. Rosenblatt
The Leber hereditary optic neuropathy 14484 mutation and X-linked adrenoleukodystrophy: A possible modifier of phenotypic expression?
R. G. F. Gray, S. H. Green, P. Davies, S. Alger, A. Green
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa
G. M. Hadjigeorgiou, G. P. Comi, A. Bordoni, J. Shen, Y.-T. Chen, S. Salani, A. Toscano, F. Fortunato, S. Lucchiari, N. Bresolin, C. Rodolico, M. G. Piscaglia, L. Franceschina, A. Papadimitriou, G. Scarlato