Journal of Inherited Metabolic Disease

Cerebral ketone body metabolism

A. A. M. Morris

Increased NO production in lysinuric protein intolerance

L. Mannucci, F. Emma, M. Markert, C. Bachmann, O. Boulat, R. Carrozzo, G. Rizzoni, C. Dionisi-Vici

Hyperinsulinism in tyrosinaemia type I

U. Baumann, M. A. Preece, A. Green, D. A. Kelly, P. J. McKiernan

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency

R. Santer, G. Gokçay, M. Demirkol, A. Gal, Z. Lukacs

L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study

P. J. Lee, E. L. Harrison, M. G. Jones, S. Jones, J. V. Leonard, R. A. Chalmers

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

L. M. Franco, V. Krishnamurthy, D. Bali, D. A. Weinstein, P. Arn, B. Clary, A. Boney, J. Sullivan, D. P. Frush, Y.-T. Chen, P. S. Kishnani

Galactosaemia: Early treatment with an elemental formula

C. O. Zlatunich, S. Packman

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency

N. M. Verhoeven, M. Wallot, J. H. J. Huck, O. Dirsch, A. Ballauf, U. Neudorf, G. S. Salomons, M. S. van der Knaap, T. Voit, C. Jakobs

Selective antibody immune deficiency in a patient with Smith–Lemli–Opitz syndrome

D. Babovic-Vuksanovic, R. M. Jacobson, N. M. Lindor, C. R. Weiler

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

S. Tomatsu, K. Okamura, H. Maeda, T. Taketani, S. V. Castrillon, M. A. Gutierrez, T. Nishioka, A. A. Fachel, K. O. Orii, J. H. Grubb, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. Schulze Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, M. Haskins, K. Isogai, Y. Suzuki, T. Orii, N. Kondo, M. Creer, T. Okuyama, A. Tanaka, A. Noguchi

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

H. Pavlů-Pereira, B. Asfaw, H. Poupčtová, J. Ledvinová, J. Sikora, M. T. Vanier, K. Sandhoff, J. Zeman, Z. Novotná, D. Chudoba, M. Elleder

Consanguineous 3-methylcrotonyl-CoA carboxylase deficiency: Early-onset necrotizing encephalopathy with lethal outcome

T. Baykal, G. Huner Gokcay, Z. Ince, M. F. Dantas, B. Fowler, M. R. Baumgartner, F. Demir, G. Can, M. Demirkol

Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency

L. Mrázová, T. Fukao, K. Hálovd, E. Gregová, V. Kohút, D. Přibyl, P. Chrastina, N. Kondo, E. Pospišilová

Ornithine transcarbamylase deficiency in pregnancy

D. R. Cordero, J. Baker, D. Dorinzi, R. Toffle

N-Carbamylglutamate protects patients with decompensated propionicaciduria from hyperammonaemia

B. Gebhardt, S. Dittrich, S. Parbel, S. Vlaho, O. Matsika, H. Bohles

Erratum