Journal of Inherited Metabolic Disease

Preface

Congenital disorders of glycosylation (CDG): It's all in it!

J. Jaeken

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx

P. B. Mills, K. Mills, N. Mian, B. G. Winchester, P. T. Clayton

Diagnosis of inherited disorders of liver metabolism

P. T. Clayton

Carnitine transport: Pathophysiology and metabolism of known molecular defects

I. Tein

Treatment of carnitine deficiency

S. C. Winter

L-Carnitine in inborn errors of metabolism: What is the evidence?

J. H. Walter

Mitochondrial oxidative phosphorylation: Pitfalls and tips in measuring and interpreting enzyme activities

D. Chretien, P. Rustin

Mitochondrial disorders: Clinical presentation and diagnostic dilemmas

J. A. M. Smeitink

A review of primary hereditary optic neuropathies

M. Votruba, S. Aijaz, A. T. Moore

The eye as a window to inborn errors of metabolism

B. T. Poll-The, L. J. Maillette De Buy Wenniger-Prick, P. G. Barth, M. Duran

Overview of inherited metabolic disorders causing cardiovascular disease

D. E. L. Wilcken

Classical homocystinuria: Vascular risk and its prevention

S. Yap

Lipoprotein disorders and cardiovascular risk

J. Genest

Choices for treatment of hyperlipidaemia

S. Tonstad

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism

C. Stromberger, O. A. Bodamer, S. Stöckler-Ipsiroglu

X-linked creatine transporter defect: An overview

G. S. Salomons, S. J. M. Van Dooren, N. M. Verhoeven, D. Marsden, C. Schwartz, K. M. Cecil, T. J. DeGrauw, C. Jakobs

Instructions to Authors