Journal of Inherited Metabolic Disease

Newborn screening for cystic fibrosis: Science, legislation, and human values

R. J. Pollitt

Neonatal screening for cystic fibrosis: France rises to the challenge

J. P. Farriaux, M. Vidailhet, M. L. Briard, V. Belot, J. L. Dhondt

Glycine N-methyltransferase deficiency: A new patient with a novel mutation

P. Augoustides-Savvopoulou, Z. Luka, S. Karyda, S. P. Stabler, R. H. Allen, K. Patsiaoura, C. Wagner, S. H. Mudd

Homocystinuria due to cystathionine β-synthase deficiency: Novel biochemical findings and treatment efficacy

M. Orendáč, J. Zeman, S. P. Stabler, R. H. Allen, J. P. Kraus, O. Bodamer, S. Stöckler-Ipsiroglu, J. Kvasnička, V. Kožich

Niemann–Pick disease: Sixteen-year follow-up of allogeneic bone marrow transplantation in a type B variant

S. Victor, J. B. S. Coulter, G. T. N. Besley, I. Ellis, R. J. Desnick, E. H. Schuchman, A. Vellodi

Hearing loss in Fabry disease: The effect of agalsidase alfa replacement therapy

D. Hajioff, Y. Enever, R. Quiney, J. Zuckerman, K. Mackermot, A. Mehta

Analysis of organic acids after incubation with (16-2H3)palmitic acid in fibroblasts from patients with mitochondrial β-oxidation defects

J. H. Osorio, M. Lluch, A. Ribes

Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

B. Wolf, C. L. Freehauf, J. A. Thomas, P. L. Gordon, C. L. Greene, J. C. Ward

Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients

W. J. Qiu, X. F. Gu, J. Ye, L.Sh. Han, Y. F. Zhang, X. Q. Liu

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

S. M. S. Budde, L. P. W. J. van den Heuvel, R. J. P. Smeets, D. Skladal, J. A. Mayr, C. Boelen, V. Petruzzella, S. Papa, J. A. M. Smeitink

Identification of a common mutation (Gly194Cys) in both Arab Moslem and Ashkenazi Jewish patients with dihydrolipoamide dehydrogenase (E3) deficiency: Possible beneficial effect of vitamin therapy

Y. S. Hong, S. H. Korman, J. Lee, P. Ghoshal, Q. Wu, V. Barash, S. Kang, S. Oh, M. Kwon, A. Gutman, A. Rachmel, M. S. Patel

Two novel mutations in the gene for human α-mannosidase that cause α-mannosidosis

T. Beccari, L. Bibi, R. Ricci, D. Antuzzi, A. Burgalossi, E. Costanzi, A. Orlacchio

Letters to the Editor

Author Index to Volume 26

Subject Index to Volume 26