Ausgabe 1/2003
Inhalt (18 Artikel)
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria
D. Dobbelaere, L. Michaud, A. Debrabander, S. Vanderbecken, F. Gottrand, D. Turck, J. P. Farriaux
Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC
P. Gissen, M. A. Preece, H. A. Willshaw, P. J. McKiernan
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations
O. Uyguner, E. Goicoechea de Jorge, A. Cefle, T. Baykal, H. Kayserili, K. Cefle, M. Demirkol, M. Yuksel-Apak, S. Rodríguez de Córdoba, B. Wollnik
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening
D. D. Koeberl, D. S. Millington, W. E. Smith, S. D. Weavil, J. Muenzer, S. E. McCandless, P. S. Kishnani, M. T. McDonald, S. Chaing, A. Boney, E. Moore, D. M. Frazier
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene
J. Seidel, S. Streck, K. Bellstedt, C. Vianey-Saban, C. B. Pedersen, J. Vockley, H. Korall, M. Roskos, T. Deufel, K. F. Trefz, A. C. Sewell, K. Kauf, F. Zintl, W. Lehnert, N. Gregersen
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX)
H. M. Schippers, G. P. A. Smit, J. P. Rake, G. Visser
Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG)
S. Grünewald, R. De Vos, J. Jaeken
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes
X. Fu, P. Rinaldo, S. H. Hahn, H. Kodama, S. Packman
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
G. C. Korenke, R. J. A. Wanders, F. Hanefeld
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
V. R. Sutton, W. E. O'Brien, G. D. Clark, J. Kim, R. J. A. Wanders
Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype
E. P. Treacy, A. Lee-Chong, G. Roche, B. Lynch, S. Ryan, S. Goodman
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G)
W. G. Ng, Y-K. Xu, L-J. Wong, F. R. Kaufman, N. R. M. Buist, G. N. Donnell
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency
J. O. Sass, M. Kishikawa, R. Puttinger, J. Reiss, W. Erwa, A. Shimizu, W. Sperl
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms
D. Penel-Capelle, D. Dobbelaere, J. Jaeken, A. Klein, M. Cartigny
Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia
T. Ito, S. Sumi, K. Kidouchi, K. Ban, A. Ueta, T. Hashimoto, H. Togari, Y. Wada
The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia
Z. N. Al-Hassnan, S. A. Boyadjiev, V. Praphanphoj, A. Hamosh, N. E. Braverman, G. H. Thomas, M. T. Geraghty
n-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage
X. Wang, C. Jakobs, D. V. Bawle