Ausgabe 5/2005
Inhalt (28 Artikel)
Body composition in young adults with inborn errors of protein metabolism—A pilot study
G. Wilcox, B. J. G. Strauss, D. E. M. Francis, H. Upton, A. Boneh
Behavioural factors related to metabolic control in patients with phenylketonuria
M. R. Crone, F. J. van Spronsen, K. Oudshoorn, J. Bekhof, G. van Rijn, P. H. Verkerk
Living with phenylketonuria: Perspectives of patients and their families
C. Bilginsoy, N. Waitzman, C. O. Leonard, S. L. Ernst
Benzoate treatment and the glycine index in nonketotic hyperglycinaemia
J. L. K. Van Hove, K. Vande Kerckhove, J. B. Hennermann, V. Mahieu, P. Declercq, S. Mertens, M. De Becker, P. S. Kishnani, J. Jaeken
A new protein substitute for adolescents and adults with maple syrup urine disease (MSUD)
P. Hallam, M. Lilburn, P. J. Lee
Ornithine aminotransferase deficiency: Diagnostic difficulties in neonatal presentation
M. A. Cleary, L. Dorland, T. J. de Koning, B. T. Poll-The, M. Duran, R. Mandell, V. E. Shih, R. Berger, S. E. Olpin, G. T. N. Besley
A case of hyperinsulinism/hyperammonaemia syndrome with reduced carbamoyl-phosphate synthetase-1 activity in liver: A pitfall in enzymatic diagnosis for hyperammonaemia
K. Ihara, K. Miyako, M. Ishimura, R. Kuromaru, H.-Y. Wang, K. Yasuda, T. Hara
Pipecolic acid concentrations in brain tissue of nutritionally pyridoxine-deficient rats
B. Plecko, H. Hoeger, C. Jakobs, E. Struys, C. Stromberger, M. Leschnik, A. Muehl, S. Stoeckler-Ipsiroglu
Clinical evaluation of a portable lactate meter in type I glycogen storage disease
A. C. Saunders, H. A. Feldman, C. E. Correia, D. A. Weinstein
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency
E. Morava, S. B. Wortmann, H. Zweers van Essen, R. Liebrand van Sambeek, R. Wevers, O. P. van Diggelen
Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder
L. J. M. Spaapen, J. A. Bakker, S. B. van der Meer, H. J. Sijstermans, R. A. Steet, R. A. Wevers, J. Jaeken
High prevalence of subclinical hypothyroidism in patients with Anderson–Fabry disease
A. C. Hauser, A. Gessl, M. Lorenz, T. Voigtländer, M. Födinger, G. Sunder-Plassmann
Gaucher disease and bone: Laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy
G. Ciana, R. Addobbati, G. Tamaro, A. Leopaldi, M. Nevyjel, L. Ronfani, L. Vidoni, M. G. Pittis, B. Bembi
A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate
O. P. van Diggelen, Ya. V. Voznyi, J. L. M. Keulemans, K. Schoonderwoerd, J. Ledvinova, E. Mengel, M. Zschiesche, R. Santer, K. Harzer
Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses
S. Tomatsu, M. A. Gutierrez, T. Ishimaru, O. M. Peña, A. M. Montaño, H. Maeda, S. Velez-Castrillon, T. Nishioka, A. A. Fachel, A. Cooper, M. Thornley, E. Wraith, L. A. Barrera, L. S. Laybauer, R. Giugliani, I. V. Schwartz, G. Schulze Frenking, M. Beck, S. G. Kircher, E. Paschke, S. Yamaguchi, K. Ullrich, K. Isogai, Y. Suzuki, T. Orii, A. Noguchi
Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)
C. E. Beesley, M. Jackson, E. P. Young, A. Vellodi, B. G. Winchester
mtDNA single macrodeletions associated with myopathies: Absence of haplogroup-related increased risk
A. Goios, C. Nogueira, C. Pereira, L. Vilarinho, A. Amorim, L. Pereira
Hereditary coproporphyria: Comparison of molecular and biochemical investigations in a large family
K. R. Allen, S. D. Whatley, T. J. Degg, J. H. Barth
Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa
S. Wendt, C. Whybra, C. Kampmann, E. Teichmann, M. Beck
Acute encephalopathy associated with influenza virus infection in a patient with hyperprolinaemia type II
Y. Kato, K. Ihara, K. Miyako, T. Kuhara, Y. Inoue, T. Hara
Successful pregnancy in a treated patient with biotinidase deficiency
C. J. Hendriksz, M. A. Preece, A. Chakrapani
Dihydropyrimidine dehydrogenase deficiency presenting at birth
N. A. Al-Sanna’a, A. B. P. Van Kuilenburg, T. M. Atrak, M. A. Abdul Jabbar, A. H. Van Gennip
Bone marrow transplantation correcting β-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis
J. P. H. Shield, J. Stone, C. G. Steward
Fumarase deficiency presenting with periventricular cysts
J. Loeffen, R. Smeets, T. Voit, G. Hoffmann, J. Smeitink
Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies
S. Funghini, A. Morrone, E. Pasquini, E. Zammarchi, M. A. Donati
The ratio of α-galactosidase to β-glucuronidase activities in dried blood for the identification of female Fabry disease patients
Z. Lukacs, A. Keil, A. Kohlschütter, M. Beck, E. Mengel
New haplotype for the Glu104Asp mutation in triose-phosphate isomerase deficiency and prenatal diagnosis in a Spanish family
A. Repiso, J. L. Vives Corrons, T. Vulliamy, N. Killeen, M. Layton, J. Carreras, F. Climent