Journal of Inherited Metabolic Disease

Diagnostic Uses of DNA Analysis: Powerful but Problematic

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

Generalized glutathione synthetase deficiency and pregnancy

E. Ristoff, C. Augustson, A. Larsson

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