Journal of Inherited Metabolic Disease

Preface

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rimoldi, E. Bertini, L. De Meirleir

Pyruvate dehydrogenase complex deficiency and absence of subunit X

L. De Meirleir, W. Lissens, C. Benelli, C. Marsac, J. De Klerk, J. Scholte, O. Van Diggelen, W. Kleijer, S. Seneca, I. Liebaers

The association of protein-losing enteropathy with cobalamin C defect

C. Ellaway, J. Christodoulou, R. Kamath, K. Carpenter, B. Wilcken

Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA

S. Fukuda, Y. Suzuki, N. Shimozawa, Z. Zhang, T. Orii, T. Aoyama, T. Hashimoto, N. Kondo

Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria

P. Griffiths, N. Ward, A. Harvie, F. Cockburn

Robert Guthrie - the PKU Story. Crusade Against Mental Retardation. Jean Holt Koch.

Bob Kennedy

Neonatal neurological assessment of offspring in maternal phenylketonuria

S.E. Waisbren, P. Chang, H. L. Levy, H. Shifrin, E. Allred, C. Azen, F. de la Cruz, W. Hanley, R. Koch, R. Matalon, B. Rouse

Oligosaccharide excretion in adult Gaucher disease

J. G. N. de Jong, J. M. F. G. Aerts, S. van Weely, C. E. M. Hollak, J. van Pelt, L. M. J. van Woerkom, M. L. F. Liebrand-van Sambeek, R. A. Wevers

Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)

K. Isogai, K. Sukegawa, S. Tomatsu, T. Fukao, X-Q. Song, Y. Yamada, S. Fukuda, T. Orii, N. Kondo

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity

M. Staudt, B. Wermuth, P. Freisinger, A. Hässler, B. F. Pontz

Complex I deficiency in association with structural abnormalities of the diaphragm and brain

C. Ellaway, K. North, S. Arbuckle, J. Christodoulou

Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy

D. Dobbelaere, S. Sukno, S. Defoort-Dhellemmes, M.-D. Lamblin, C. Largillière

Fatal neonatal malonic aciduria

B. Buyukgebiz, C. Jakobs, H.R. Scholte, J. G. M. Huijmans, W. J. Kleijer

Phosphomannomutase deficiency and normal pubertal development

J. Artigas, E. Cardo, M. Pineda, R. Nosas, J. Jaeken

Functions and Biogenesis of Peroxisomes in Relation to Human Disease.

G.M. Addison

Increased resting energy expenditure in glycogen storage disease type Ia

F. Feillet, O. A. F. Bodamer, J. V. Leonard

In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations

J. Weglage, H. E. Möller, D. Wiedermann, S. Cipcic-Schmidt, J. Zschocke, K. Ullrich

Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy

S. J. Iqbal

Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency

N. Sakura, H. Ono, S. Nomura, H. Ueda, N. Fujita

Increased urine methylmalonic acid excretion in infants with apnoeas

R. Artuch, M. Calvo, A. Ribes, F. Camarasa, M. A. Vilaseca