Journal of Inherited Metabolic Disease

Preface

Brian Fowler, Guy Besley

Garrod's foresight; our hindsight

C. R. Scriver

Changes in clinical practice with the unravelling of diseases: Connective-tissue disorders

J. Spranger

The use of functional genomics in C. elegans for studying human development and disease

P. E. Kuwabara, N. O'Neil

Applications of mass spectrometry in the study of inborn errors of metabolism

P. T. Clayton

Clinical, biochemical and genetic aspects and neuronal migration in peroxisome biogenesis disorders

Y. Suzuki, N. Shimozawa, A. Imamura, S. Fukuda, Z. Zhang, T. Orii, N. Kondo

Import of proteins into mitochondria: A novel pathomechanism for progressive neurodegeneration

M. F. Bauer, W. Neupert

Clinical and molecular studies of mitochondrial disease

Y. Goto

The role of chaperone-assisted folding and quality control in inborn errors of metabolism: Protein folding disorders

N. Gregersen, P. Bross, B. S. Andresen, C. B. Pedersen, T. J. Corydon, L. Bolund

A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria

H. Erlandsen, R. C. Stevens

3rd International Conference on Homocysteine Metabolism

Liver repopulation for the treatment of metabolic diseases

M. Grompe

Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties

J. E. Wraith

Enzyme replacement and beyond

R. J. Desnick

Enzyme therapy for Pompe disease with recombinant human α-glucosidase from rabbit milk

J. M. P. Van den Hout, A. J. J. Reuser, J. B. C. de Klerk, W. F. Arts, J. A. M. Smeitink, A. T. Van der Ploeg

Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

F. M. Platt, M. Jeyakumar, U. Andersson, D. A. Priestman, R. A. Dwek, T. D. Butters, T. M. Cox, R. H. Lachmann, C. Hollak, J. M. F. G. Aerts, S. Van Weely, M. Hrebícek, C. Moyses, I. Gow, D. Elstein, A. Zimran

Rare diseases and the assessment of intervention: What sorts of clinical trials can we use?

B. Wilcken

Newborn mass screening versus selective investigation: Benefits and costs

R. J. Pollitt

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry

S. Albers, S. E. Waisbren, M. G. Ampola, T. G. Brewster, L. W. Burke, L. A. Demmer, J. Filiano, R. M. G. Greenstein, C. L. Ingham, M. S. Korson, D. Marsden, R. C. Schwartz, M. R. Seashore, V. E. Shih, H. L. Levy

Amino acids: Analytical aspects

P. D. Mayne, G. Roche, D. Deverell

The management of organic acidaemias: The role of transplantation

J. V. Leonard, J. H. Walter, P. J. McKiernan

Diagnosis of mitochondrial disorders: Clinical and biochemical approach

D. R. Thorburn, J. Smeitink