Journal of Inherited Metabolic Disease

Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study

F. Baehner, C. Kampmann, C. Whybra, E. Miebach, C. M. Wiethoff, M. Beck

A model of neuronopathic Gaucher disease

P. E. Campbell, C. M. Harris, T. Sirimanna, A. Vellodi

A neurological symptom survey of patients with type I Gaucher disease

G. M. Pastores, N. L. Barnett, P. Bathan, E. H. Kolodny

Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi

L. Niers, L. van den Heuvel, F. Trijbels, R. Sengers, J. Smeitink

Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation

J. J. Gargus, K. Boyle, M. Bocian, D. S. Roe, C. Vianey-Saban, C. R. Roe

Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1α subunit

Yong-Ge Wu, Wen-Yang Chen, Zi-Wei Zhang, Gui-Zheng Yang, Wei Li, Ronald G. Duggleby

Efficacy of multidisciplinary approach in the treatment of two cases of nonclassical infantile glycogenosis type II

B. Bembi, G. Ciana, C. Martini, A. Benettoni, A. Gombacci, M. Deganuto, M. G. Pittis

Phenylalanine can be detected in brain tissue of healthy subjects by 1H magnetic resonance spectroscopy

J. Pietz, T. Lutz, K. Zwygart, G. F. Hoffmann, F. Ebinger, C. Boesch, R. Kreis

Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

Á. László, É. Á. Schuler, É. Sallay, E. Endreffy, Cs. Somogyi, Á. Várkonyi, Z. Havass, K. P. Jansen, B. Wolf

Mutations in galactose-1-phosphate uridyltransferase gene in patients with idiopathic presenile cataract

N. Karas, L. Gobec, V. Pfeifer, B. Mlinar, T. Battelino, J. Lukac-Bajalo

Case Report: 3-Methyglutaconic Aciduria in a Chinese Patient with Glycogen Storage Disease Ib

L. K. Law, N. L. S. Tang, J. Hui, C. W. K. Lam, T. F. Fok

Case Report: Rhabdomyolysis in Glutaric Aciduria Type I

S. L. Chow, C. Rohan, A. A. M. Morris

Case Report: Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: A novel mutation in a Turkish patient with glutaric aciduria type I

C. Mühlhausen, E. Christensen, M. Schwartz, N. Muschol, K. Ullrich, Z. Lukacs

Short Report: Normalization of low biotinidase activity in a child with biotin deficiency after biotin supplementation

M. Kimura, T. Fukui, Y. Tagami, T. Fujiwaki, M. Yokoyama, C. Ishioka, K. Kumasaka, N. Terada, S. Yamaguchi

Short Report: Tall stature and progressive overweight in mitochondrial encephalopathy

E. Morava, F. A. Hol, A. Janssen, J. Smeitink

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