Issue 1/1999
Content (18 Articles)
3-Methylglutaconic aciduria type I: Clinical heterogeneity as a neurometabolic disease
Y. Shoji, T. Takahashi, Y. Sawaishi, A. Ishida, M. Matsumori, Ya. Shoji, M. Enoki, H. Watanabe, G. Takada
Identification of new medium-chain acylcarnitines present in urine of a patient with medium-chain acyl-CoA dehydrogenase deficiency
R. Libert, F. Van Hoof, M. Thillaye, M.-F. Vincent, M.-C. Nassogne, V. Stroobant, E. de Hoffmann, A. Schanck
The human NADH:ubiquinone oxidoreductase NDUFS5 (15kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients
J. Loeffen, R. Smeets, J. Smeitink, R. Triepels, R. Sengers, F. Trijbels, L. van den Heuvel
Transport of phytanic acid on lipoproteins in Refsum disease
A. S. Wierzbicki, A. Sankaralingam, P. J. Lumb, T. C. Hardman, M. C. Sidey, F. B. Gibberd
The molecular basis of transferase galactosaemia in South African negroids
N. Manga, T. Jenkins, H. Jackson, D. A. Whittaker, A. B. Lane
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia
M. Stroppiano, S. Regis, M. DiRocco, F. Caroli, P. Gandullia, R. Gatti
Bone marrow transplantation for Maroteaux–Lamy syndrome (MPS VI): Long-term follow-up
E. Herskhovitz, E. Young, J. Rainer, C. M. Hall, V. Lidchi, K. Chong, A. Vellodi
Severe skeletal complications in Japanese patients with type 1 Gaucher disease
H. Ida, O. M. Rennert, S. Kato, T. Ueda, K. Oishi, K. Maekawa, Y. Eto
Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics
T. Ohura, D. Abukawa, H. Shiraishi, A. Yamaguchi, S. Arashima, S. Hiyamuta, K. Tada, K. Iinuma
Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G
A. K. Topaloglu, C. Sansaricq, J. E. Fox, A. E. Bale, M. Tuchman, R. J. Desnick
An adult with a non-neuronopathic form of Niemann_Pick C disease
A. H. Fensom, A. R. Grant, S. J. Steinberg, C. P. Ward, B. D. Lake, E. C. Logan, G. Hulman
Aplastic anaemia in association with Kearns_Sayre syndrome
T. F. Leung, J. Hui, E. Shoubridge, C. K. Li, K. W. Chik, M. M. K. Shing, G. W. K. Wong, W. L. Yeung, P. M. P. Yuen
Normal acylcarnitines in maternal urine during a pregnancy affected by glutaric aciduria type II
N. J. Manning, J. R. Bonham, M. Downing, R. G. Edwards, S. E. Olpin, R. J. Pollitt, M. Pourfarzam, M. J. Sharrard, M. S. Tanner
The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients
L. Vilarinho, R. Chorão, M. L. Cardoso, H. Rocha, C. Nogueira, F. M. Santorelli
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients
E. Popowska, E. Ciara, D. Rokicki, E. Pronicka
Fatal genetic defect causing Wolman disease
E. Mayatepek, U. Seedorf, H. Wiebusch, H. Lenhartz, G. Assmann