Ausgabe 4/1997
Inhalt (27 Artikel)
Continuous venovenous haemodiafiltration in the acute phase of neonatal maple syrup urine disease
P. Jouvet, F. Poggi, D. Rabier, J. L. Michel, P. Hubert, M. Sposito, J. M. Saudubray, N. K. Man
Abnormal glutathione conjugation in patients with tyrosinaemia type I
T. M. T. Mulders, D. J. W. Bergman, B.-T. Poll-The, G. P. A. Smit, D. D. Breimer, G. J. Mulder, M. Duran, J. A. M. Smeitink
Treatment products and approaches for phenylketonuria: improved palatability and flexibility demonstrate safety, efficacy and acceptance in US clinical trials
A. P. Prince, M. P. McMurry, N. R. M. Buist
Adult psychosocial outcome in early-treated phenylketonuria
M. D. Ris, A. M. Weber, M. M. Hunt, H. K. Berry, S. E. Williams, N. Leslie
Mitochondrial abnormalities of liver in two children with citrullinaemia
S. A. Zamora, A. Pinto, R. B. Scott, H. G. Parsons
Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity
S. Vella, F. Steiner, V. Schlumbom, R. Zurbrügg, U. N. Wiesmann, T. Schaffner, B. Wermuth
Identification of ‘private’ mutations in patients with ornithine transcarbamylase deficiency
M. Tuchman, H. Morizono, B. S. Rajagopal, R. J. Plante, N. M. Allewell
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)
D. S. Rosenblatt, A. L. Aspler, M. I. Shevell, B. A. Pletcher, W. A. Fenton, M. R. Seashore
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency
E. Naito, M. Ito, I. Yokota, T. Saijo, J. Matsuda, H. Osaka, S. Kimura, Y. Kuroda
A longitudinal study of cognitive functioning in patients with classical galactosaemia, including a cohort treated with oral uridine
F. R. Manis, L. B. Cohn, C. McBride-Chang, J. A. Wolff, F. R. Kaufman
A novel acid α-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II
M. A. Kroos, A. E. Waitfield, M. Joosse, B. Winchester, A. J. J. Reuser, K. D. MacDermot
Metabolic control and renal dysfunction in type I glycogen storage disease
J. I. Wolfsdorf, L. M. B. Laffel, J. F. Crigler Jr.
A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60
P. Briones, M. A. Vilaseca, A. Ribes, A. Vernet, M. Lluch, V. Cusi, A. Huckriede, E. Agsteribbe
Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome
A. van Rooij, A. A. Nijenhuis, F. A. Wijburg, R. B. H. Schutgens
Effect of plasma α-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency
A. Kohlschütter, E. Mayatepek, B. Finckh, C. Hübner
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin
W. J. Kleijer, J. L. M. Keulemans, M. van der Kraan, G. G. Geilen, R. M. van der Helm, M. A. Rafi, P. Luzi, D. A. Wenger, D. J. J. Halley, O. P. van Diggelen
Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase
E. Young, C. Chatterton, A. Vellodi, B. Winchester
Vitamin B12 deficiency in an adult phenylketonuric patient
T. T. Aung, A. Klied, J. McGinn, T. McGinn
Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency
A. A. M. Morris, S. E. Olpin, W. G. Van't Hoff, A. W. Johnson, J. V. Leonard
Adenylosuccinase deficiency presenting with epilepsy in early infancy
P.D. Maaswinkel-Mooij, L. A. E. M. Laan, W. Onkenhout, O. F. Brouwer, J. Jaeken, B. J. H. M. Poorthuis
Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia
D. Müller, R. Santer, M. Krawinkel, B. Christiansen, J. Schaub
Glycerol kinase deficiency and adrenal hypoplasia congenita
R. A. Clarke, N. Howard, W. J. O'Sullivan, L. G. Svirklys, A. G. Mackinlay
Recessive congenital methaemoglobinaemia type II, a new mutation which causes incorrect splicing in the NADH-cytochrome b5 reductase gene
E. P. Owen, J. Berens, A. M. Marinaki, H. Ipp, E. H. Harley
Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients
K. Hodaňová, M. Hřebíček, M. Červenková, J. M. F. G. Aerts, J. Zeman
Symptomatic hyperinsulinism reversed by dietary manipulation in glycogenosis type III
P. J. Lee, C. Ferguson, F. W. Alexander
Fenugreek odour in maple syrup urine disease
K. Monastiri, K. Limame, N. Kaabachi, H. Kharrat, S. Bousnina, H. Pousse, M. Radhouane, M. N. Gueddiche, N. Snoussi