Issue 3/2001
Content (20 Articles)
Management of neuronopathic Gaucher disease: A European consensus
A. Vellodi, B. Bembi, T. B. de Villemeur, T. Collin-Histed, A. Erikson, E. Mengel, A. Rolfs, A. Tylki-Szymanska
Clinical course and biochemistry of sialuria
G. M. Enns, R. Seppala, T. J. Musci, K. Weisiger, L. D. Ferrell, D. A. Wenger, W. A. Gahl, S. Packman
Intermediates of unsaturated fatty acid oxidation are incorporated in triglycerides but not in phospholipids in tissues from patients with mitochondrial β-oxidation defects
W. Onkenhout, V. Venizelos, H. R. Scholte, J. B. C. de Klerk, B. J. H. M. Poorthuis
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
M. Skrygan, B. Bartholomé, L. Bonafé, N. Blau, K. Bartholomé
Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Dutch neonates
L. J. M. Spaapen, J. A. Bakker, C. Velter, W. Loots, M. E. Rubio-Gonzalbo, P. P. Forget, L. Dorland, T. J. De Koning, B. T. Poll-The, H. K. Ploos Van Amstel, J. Bekhof, N. Blau, M. Duran
Plasma phenylalanine is asociated with decreased serum ubiquine-10 concentrations in phenylketonuria
R. Artuch, C. Colomé, M. A. Vilaseca, C. Sierra, F. J. Cambra, N. Lambruschini, J. Campistol
Factor V Leiden mutation in Turkish patients with homozygous cystathionine β-synthase deficiency
H. S. Kalkanoğlu, T. Coşkun, S. D. Aydoğdu, A. Tokatli, A. Gürgey
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry
S. Stadler, K. Gempel, I. Bieger, B. F. Pontz, K.-D. Gerbitz, M. F. Bauer, S. Hofmann
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27)
S. Sugama, A. Kimura, W. Chen, S. Kubota, Y. Seyama, N. Taira, Y. Eto
Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community
L. D. Love-Gregory, J. A. Dyer, J. Grasela, R. E. Hillman, C. L. Phillips
Massive 5-oxoprolinuria with normal 5-oxoprolinase and glutathione synthetase activities
E. Riudor, J. A. Arranz, R. Alvarez, K. Carlsson, M. del Toro, F. Salmerón, F. Piñol, E. Ristoff, M. Sentís, A. Larsson
Sudden death in a Korean infant with very long-chain acyl-CoA dehydrogenase deficiency
H.-R. Yoon, A. W. Strauss, H.-W. Yoo
Ketoacidosis: an unusual presentation of MELAS
J. Strachan, A. McLellan, M. Kirkpatrick, R. Hume, D. Mechan
Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D
M. Di Rocco, U. Caruso, H. R. Waterham, P. Picco, A. Loy, R. J. A. Wanders
Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?
M. Tsimaratos, I. Kone-Paut, P. Divry, N. Philip, B. Chabrol
Gabapentin interference with urine histidine as measured by the Beckman amino acid analyser
J. E. Hoover-Fong, M. T. Geraghty, G. V. Raymond, G. H. Thomas
Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency
S. Albers, H. L. Levy, M. Irons, A. W. Strauss, D. Marsden
Splenectomy in two siblings with G-CSF-dependent glycogen storage disease type Ib
A. Boneh, A. W. Auldist, D. E. M. Francis, S. Casanelia, L. Warwick, K. Tiedemann
Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome
G. Tóth, É. Morava, J. Bene, J. J. M. Selhorst, H. Overmars, P. Vreken, J. Molnár, V. Farkas, B. Melegh
Sustained oral lysine supplementation in ornithine δ-aminotransferase deficiency
O. N. Elpeleg, S. H. Korman