Ausgabe 6/2005
Inhalt (61 Artikel)
False-positive results in neonatal screening for cystic fibrosis based on a three-stage protocol (IRT/DNA/IRT): Should we adjust IRT cut-off to ethnic origin?
D. Cheillan, M. Vercherat, F. Chevalier-Porst, M. Charcosset, M. O. Rolland, C. Dorche
The knowledge gap in expanded newborn screening: Survey results from paediatricians in Massachusetts
M. Gennaccaro, S. E. Waisbren, D. Marsden
Social outcome in treated individuals with inherited metabolic disorders: UK study
M. Bhat, C. Haase, P. J. Lee
State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria: An event-related potential comparison
J. R. Wiersema, J. J. van der Meere, H. Roeyers
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria
M. Hoeksma, M. Van Rijn, P. H. Verkerk, A. M. Bosch, M. F. Mulder, J. B. C. de Klerk, T. J. De Koning, E. Rubio-Gozalbo, M. De Vries, P. J. J. Sauer, F. J. van Spronsen
Predicting the phenylalanine blood concentration from urine analyses. An approach to noninvasive monitoring of patients with phenylketonuria
U. Langenbeck, F. Baum, A. Mench-Hoinowski, H. Luthe, A. W. Behbehani
Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatment
A. Ormazabal, M. A. Vilaseca, B. Pérez-Dueñas, N. Lambruschini, L. Gómez, J. Campistol, R. Artuch
Renal function in tyrosinaemia type I after liver transplantation: A long-term follow-up
L. J. W. M. Pierik, F. J. van Spronsen, C. M. A. Bijleveld, C. M. L. van Dael
Identification of a common novel mutation in Saudi patients with argininosuccinic aciduria
M. Al-Sayed, S. AlAhmed, O. Alsmadi, H. Khalil, M. S. Rashed, F. Imtiaz, B. F. Meyer
S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy
I. Barić, M. Ćuk, K. Fumić, O. Vugrek, R. H. Allen, B. Glenn, M. Maradin, L. Pažanin, I. Pogribny, M. Radoš, V. Sarnavka, A. Schulze, S. Stabler, C. Wagner, S. H. Zeisel, S. H. Mudd
Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases
T. Baykal, G. Gokcay, Y. Gokdemir, F. Demir, Y. Seckin, M. Demirkol, K. Jensen, B. Wolf
Determination of the GABA analogue succinic semialdehyde in urine and cerebrospinal fluid by dinitrophenylhydrazine derivatization and liquid chromatography–tandem mass spectrometry: Application to SSADH deficiency
E. A. Struys, E. E. W. Jansen, K. M. Gibson, C. Jakobs
Kinetic characterization of human hydroxyacid–oxoacid transhydrogenase: Relevance toD-2-hydroxyglutaric and γ-hydroxybutyric acidurias
E. A. Struys, N. M. Verhoeven, H. J. Ten Brink, W. V. Wickenhagen, K. M. Gibson, C. Jakobs
Body composition in children with galactosaemia
B. Panis, P. Ph. Forget, F. H. Nieman, M. J. P. G. van Kroonenburgh, M. E. RubioGozalbo
Mutation spectrum of type I glycogen storage disease in Hungary
G. Miltenberger-Miltenyi, L. Szonyi, L. Balogh, G. Utermann, A. R. Janecke
Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
C. MÜHlhausen, R. Schneppenheim, U. Budde, M. Merkel, N. Muschol, K. Ullrich, R. Santer
Analysis of polyols in urine by liquid chromatography–tandem mass spectrometry: A useful tool for recognition of inborn errors affecting polyol metabolism
M. M. C. Wamelink, D. E. C. Smith, C. Jakobs, N. M. Verhoeven
A novel assay for the prenatal diagnosis of Sjögren–Larsson syndrome
D. M. van den Brink, J. M. van Miert, R. J. A. Wanders
Effect of copper and diethyldithiocarbamate combination therapy on the macular mouse, an animal model of Menkes disease
H. Kodama, E. Sato, Y.-H. Gu, K. Shiga, C. Fujisawa, T. Kozuma
External quality assurance programme for enzymatic analysis of lysosomal storage diseases: A pilot study
G. J. G. Ruijter, M. Boer, C. W. Weykamp, R. De Vries, I. van den Berg, J. Janssens-Puister, K. Niezen-Koning, R. A. Wevers, B. J. H. M. Poorthuis, O. P. van Diggelen
A comparative study of cytoplasmic granules imaged by the real-time microscope, Nile Red and Filipin in fibroblasts from patients with lipid storage diseases
N.-A. Pham, M. R. Gal, R. D. Bagshaw, A. J. Mohr, B. Chue, T. Richardson, J. W. Callahan
Globoid cell leukodystrophy (Krabbe disease): Normal umbilical cord blood galactocerebrosidase activity and polymorphic mutations
S. Raghavan, B. Zeng, P. A. Torres, G. M. Pastores, E. H. Kolodny, J. Kurtzberg, W. Krivit
Cumulative incidence rates of the mucopolysaccharidoses in Germany
F. Baehner, C. Schmiedeskamp, F. Krummenauer, E. Miebach, M. Bajbouj, C. Whybra, A. Kohlschütter, C. Kampmann, M. Beck
Mucopolysaccharidosis I: α-L-Iduronidase mutations in three Tunisian families
S. Laradi, T. Tukel, M. Erazo, J. Shabbeer, L. Chkioua, S. Khedhiri, S. Ferchichi, M. Chaabouni, A. Miled, R. J. Desnick
Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients
M. F. G. Petry, K. Nonemacher, J. C. Sebben, I. V. D. Schwartz, A. C. M. Azevedo, M. G. Burin, A. R. De Rezende, C. A. Kim, R. Giugliani, S. Leistner-Segal
Nonviral in vivo gene transfer in the mucopolysaccharidosis I murine model
M. Camassola, L. M. Braga, A. Delgado-Cañedo, T. P. Dalberto, U. Matte, M. Burin, R. Giugliani, N. B. Nardi
Marrow stromal cells from patients affected by MPS I differentially support haematopoietic progenitor cell development
M. A. Baxter, R. F. Wynn, L. Schyma, D. K. Holmes, J. E. Wraith, L. J. Fairbairn, I. Bellantuono
Dietary rescue of fumble—a Drosophila model for pantothenate-kinase-associated neurodegeneration
Y. Yang, Z. Wu, Y. M. Kuo, B. Zhou
Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype
G. de Voer, P. van der Bent, A. J. G. Rodrigues, G.-J. B. van Ommen, D. J. M. Peters, P. E. M. Taschner
Pulmonary hypertension—A new manifestation of mitochondrial disease
A. R. Barclay, G. Sholler, J. Christodolou, A. Shun, S. Arbuckle, S. Dorney, M. O. Stormon
Mutation detection in four candidate genes (OXA1L, MRS2L, YME1L and MIPEP) for combined deficiencies in the oxidative phosphorylation system
M. J. H. Coenen, J. A. M. Smeitink, R. Smeets, F. J. M. Trijbels, L. P. van den Heuvel
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high–pressure liquid chromatography–electrospray ionization tandem mass spectrometry
C. Schmidt, U. Hofmann, D. Kohlmüller, T. Mürdter, U. M. Zanger, M. Schwab, G. F. Hoffmann
Phenotypic heterogeneity in biochemical parameters correlates with mutations in AGPAT2 or Seipin genes among Berardinelli–Seip congenital lipodystrophy patients
K. B. Gomes, V. Cavalcanti Pardini, A. Clayton de Souza Ferreira, A. P. Fernandes
Hyperammonaemic encephalopathy induced by a commercial very-low-energy diet in a neglected ornithine-carbamoyltransferase-deficient woman
S. Vinzio, A. E. Perrin, E. Forestier, J. L. Schlienger, B. Goichot
Severe hypoglycaemia in isolated 3-methylcrotonyl-CoA carboxylase deficiency; a rare, severe clinical presentation
H. G. M. Oude Luttikhuis, G. Touati, D. Rabier, M. Williams, C. Jakobs, J. M. Saudubray
Methylcrotonyl-CoA carboxylase (MCC) deficiency associated with severe muscle pain and physical disability in an adult
A. Boneh, M. Baumgartner, M. Hayman, H. Peters
First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria
M. O. Rolland, L. Cuisset, J. Le Bozec, N. Guffon, C. VianeySaban
Retinitis pigmentosa in mevalonate kinase deficiency
B. Balgobind, D. Wittebol-Post, J. Frenkel
Mucopolysaccharidosis I under enzyme replacement therapy with laronidase—A mortality case with autopsy report
H.-Y. Lin, S.-P. Lin, C.-K. Chuang, M.-R. Chen, B.-F. Chen, J. E. Wraith
Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria
M.-H. Read, C. Bonamy, D. Laloum, F. Belloy, J. M. Constans, B. Guillois, M.-L. Kottler, N. M. Verhoeven, C. Jakobs
Rhabdomyolysis in early-onset very long-chain acyl-CoA dehydrogenase deficiency despite normal glucose after fasting
H. M. Engbers, L. Dorland, M. G. M. De Sain, P. F. Eskes, G. Visser
Trial of erythropoietin treatment in a boy with glutathione synthetase deficiency
J. Sykut-Cegielska, A. Jurecka, J. Taybert, W. Gradowska, M. Pajdowska, E. Pronicka
Increased HVA detected on organic acid analysis in a patient with Costello syndrome
A. Bowron, J. G. Scott, C. Brewer, P. Weir
Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia
T. W. L. Mak, L. M. Wong, S. N. Wong, K. Tse, J. P. S. Lai
Congenital disorder of glycosylation (CDG) Ig: Report on a patient and review of the literature
M. Di Rocco, T. Hennet, C. E. Grubenmann, S. Pagliardini, A. E. M. Allegri, C. G. Frank, M. Aebi, S. Vignola, J. Jaeken
A novel deletion in a Pearson syndrome infant with hypospadias and cleft lip and palate
O. Lohi, A. L. Kuusela, M. Arola
Methionine adenosyltransferase (MAT) I/III deficiency with concurrent hyperhomocysteinaemia: Two novel cases
M. Linnebank, F. Lagler, A. C. Muntau, W. Röschinger, B. Olgemöller, B. Fowler, H. G. Koch
Search for mutations in SLC1A5 (19q13) in cystinuria patients
E. Brauers, U. Vester, K. Zerres, T. Eggermann
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: A diagnostic pitfall
R. J. Soorani-Lunsing, F. J. van Spronsen, I. Stolte-Dijkstra, R. J. Wanders, S. Ferdinandusse, H. R. Waterham, B. T. Poll-The, J. P. Rake
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiency
C. Cavicchi, M. A. Donati, E. Pasquini, G. M. Poggi, C. Dionisi-Vici, R. Parini, E. Zammarchi, A. Morrone
Methylmalonic aciduria: Follow-up and enzymology on the original case after 36 years
M. D. Bain, J. Till, M. G. Jones, G. T. N. Besley, P. Lee, D. Oliveira, R. A. Chalmers
Influence of D-arabitol and ribitol on neuronal network activity
A. Klusmann, W. Fleischer, A. Waldhaus, M. Siebler, E. Mayatepek
Genetic variants of transferrin in the diagnosis of protein hypoglycosylation
Z. Albahri, E. Marklová, H. Vaníček, L. Minxová, P. Dédek, S. Skálová
Congenital disorder of glycosylation type Ia in a 6-year-old girl with a mild intellectual phenotype: Two novel PMM2 mutations
D. Coman, S. Klingberg, D. Morris, J. McGill, H. Mercer
Smith–Lemli–Opitz syndrome with a classical phenotype, oesophageal achalasia and borderline plasma sterol concentrations
D. Haas, S. Armbrust, J.-P. Haas, J. Zschocke, K. Mühlmann, C. Fusch, L. M. Neumann
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)
M. Jackson, P. Clayton, S. Grunewald, G. Keir, K. Mills, P. Mills, B. Winchester, V. Worthington, E. Young