Journal of Inherited Metabolic Disease

The aetiology of neurological complications of organic acidaemias—A role for the blood–brain barrier

S. Kölker, S. W. Sauer, R. A. H. Surtees, J. V. Leonard

Commentary on: The aetiology of neurological complications of organic acidaemias—a role for the blood–brain barrier. Kölker S, Sauer SW, Surtees RAH, Leonard JV

A. A. M. Morris

Glucosylceramide transfer from lysosomes—the missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data

M. Elleder

Variant maple syrup urine disease (MSUD)—The entire spectrum

E. Simon, N. Flaschker, P. Schadewaldt, U. Langenbeck, U. Wendel

Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency

M. R. Zurflüh, L. Fiori, B. Fiege, I. Ozen, M. Demirkol, K. H. Gärtner, B. Thöny, M. Giovannini, N. Blau

Large neutral amino acids in the treatment of phenylketonuria (PKU)

R. Matalon, K. Michals-Matalon, G. Bhatia, E. Grechanina, P. Novikov, J. D. McDonald, J. Grady, S. K. Tyring, F. Guttler

Mutational spectrum of classical galactosaemia in Spain and Portugal

L. Gort, M. D. Boleda, L. Tyfield, L. Vilarinho, I. Rivera, M. L. Cardoso, M. Santos-Leite, M. Girós, P. Briones

Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations

S. Alves, M. Mangas, M. J. Prata, G. Ribeiro, L. Lopes, H. Ribeiro, J. Pinto-Basto, M. Reis Lima, L. Lacerda

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: Enzymatic activity, protein processing and structural analysis

K. Sukegawa-Hayasaka, Z. Kato, H. Nakamura, S. Tomatsu, T. Fukao, K. Kuwata, T. Orii, N. Kondo

Two familial cases of high blood galactose of unknown aetiology

Nicola Brunetti-Pierri, Antone R. Opekun, William J. Craigen

Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome

J. A. Thomas, S. Jacobs, J. Kierstein, J. Van Hove

Sudden deterioration in nonclassical infantile-onset Pompe disease responding to alglucosidase alfa infusion therapy: A case report

S. I. Pascual-Pascual, P. Rubio, L. Albajara, M. Gutierrez, A. Chabas, F. Alvarado

Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis

M. Cailliez, F. Garaix, C. Rousset-Rouvière, D. Bruno, I. Kone-Paut, J. Sarles, B. Chabrol, M. Tsimaratos

X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

I. A. Anselm, F. S. Alkuraya, G. S. Salomons, C. Jakobs, A. B. Fulton, M. Mazumdar, M. Rivkin, R. Frye, T. Young Poussaint, D. Marsden

Author Index to Volume 29