Ausgabe 5/2007
Inhalt (45 Artikel)
Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults
F. Sedel, N. Baumann, J.-C. Turpin, O. Lyon-Caen, J.-M. Saudubray, D. Cohen
Peripheral neuropathy and inborn errors of metabolism in adults
F. Sedel, C. Barnerias, O. Dubourg, I. Desguerres, O. Lyon-Caen, Jean-Marie Saudubray
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann–Pick disease
E. H. Schuchman
Cytoskeleton as a potential target in the neuropathology of maple syrup urine disease: Insight from animal studies
R. Pessoa-Pureur, M. Wajner
Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency
S. W. Sauer
l-2-Hydroxyglutaric aciduria, a defect of metabolite repair
R. Rzem, M.-F. Vincent, E. Van Schaftingen, M. Veiga-da-Cunha
Novel insights into L-2-hydroxyglutaric aciduria: Mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid
E. A. Struys, K. M. Gibson, C. Jakobs
Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature
M. Huemer, C. Huemer, D. Möslinger, D. Huter, S. Stöckler-Ipsiroglu
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study
B. K. Burton, D. K. Grange, A. Milanowski, G. Vockley, F. Feillet, E. A. Crombez, V. Abadie, C. O. Harding, S. Cederbaum, D. Dobbelaere, A. Smith, A. Dorenbaum
Family conditions and dietary control in phenylketonuria
G. M. Olsson, S. M. Montgomery, J. Alm
Nutrient intake in lysinuric protein intolerance
L. M. Tanner, K. Näntö-Salonen, J. Venetoklis, S. Kotilainen, H. Niinikoski, K. Huoponen, O. Simell
High frequency of missense mutations in glycogen storage disease type VI
N. J. Beauchamp, J. Taybert, M. P. Champion, V. Layet, P. Heinz-Erian, A. Dalton, M. S. Tanner, E. Pronicka, M. J. Sharrard
Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine
M. M. Wamelink, D. E. Smith, E. E. Jansen, N. M. Verhoeven, E. A. Struys, C. Jakobs
Upper airway obstructive disease in mucopolysaccharidoses: Polysomnography, computed tomography and nasal endoscopy findings
F. Santamaria, M. V. Andreucci, G. Parenti, M. Polverino, D. Viggiano, S. Montella, A. Cesaro, R. Ciccarelli, B. Capaldo, G. Andria
Cardiac abnormalities in adults with the attenuated form of mucopolysaccharidosis type I
O. I. I. Soliman, R. G. M. Timmermans, A. Nemes, W. B. Vletter, J. H. P. Wilson, F. J. ten Cate, M. L. Geleijnse
Effect of ‘attenuated’ mutations in mucopolysaccharidosis IVA on molecular phenotypes of N-acetylgalactosamine-6-sulfate sulfatase
A. M. Montaño, K. Sukegawa, Z. Kato, R. Carrozzo, P. Di Natale, E. Christensen, K. O. Orii, T. Orii, N. Kondo, S. Tomatsu
A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease
E. H. Davies, R. Surtees, C. DeVile, I. Schoon, A. Vellodi
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience
P. Grigorescu Sido, C. Drugan, V. Cret, C. Al-Kzouz, C. Denes, C. Coldea, A. Zimmermann
Natural history of the respiratory involvement in Anderson–Fabry disease
S. Magage, J.-C. Lubanda, Z. Susa, J. Bultas, D. Karetová, R. Dobrovolný, M. Hřebíček, D. P. Germain, A. Linhart
Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice
A. Latini, K. Scussiato, G. Leipnitz, K. M. Gibson, M. Wajner
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type)
Sandra G. Heil, Marije Hogeveen, Leo A. J. Kluijtmans, P. J. van Dijken, Gerard B. van de Berg, Henk J. Blom, Eva Morava
The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: Evaluation of response and subsequent treatment
M. D. Bóveda, M. L. Couce, D. E. Castiñeiras, J. A. Cocho, B. Pérez, M. Ugarte, J. M. Fraga
Complete deletion of ornithine transcarbamylase gene confirmed by CGH array of X chromosome
J. A. Arranz, I. Madrigal, E. Riudor, Ll. Armengol, M. Milà
Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency
M. Di Rocco, A. R. Fantasia, M. Taro, A. Loy, A. Forlino, A. Martini
Prospective treatment in carnitine–acylcarnitine translocase deficiency
G. Pierre, A. Macdonald, G. Gray, C. Hendriksz, M. A. Preece, A. Chakrapani
Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency
W.-L. Hwu, Y.-H. Chien, N. L. S. Tang, L.-K. Law, C.-Y. Lin, N.-C. Lee
Very long chain acyl-CoA dehydrogenase deficiency in a pair of mildly affected monozygotic twin sister in their late fifties
A. Zia, E. H. Kolodny, G. M. Pastores
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene
F. R. O. Calderon, L. Nelson, P. Dobrowolski, I. Sinitsyna, A. Phansalkar, N. Longo, M. Pasquali, R. Mao
Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency
V. Krishnamurthy, K. Eschrich, A. Boney, J. Sullivan, M. McDonald, P. S. Kishnani, D. D. Koeberl
Successful treatment of severe heart failure in an infant with Hurler syndrome
A. Hirth, A. Berg, G. Greve
Enzyme replacement therapy in 12 patients with MPS I–H/S with homozygous p.Leu490Pro mutation
R. S. Arora, J. Mercer, M. Thornley, K. Tylee, J. E. Wraith
Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease
H. Michelakakis, C. Kariyannis, M. Moraitou, E. Dimitriou, J. Sarafidou, I. Papassotiriou
Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis
Nicola Brunetti-Pierri, Asad Mian, Rebecca Luetchke, Brett H. Graham
Effect of treatment on biclonal gammopathy associated with Gaucher disease
O. Decaux, A. Ruelland, B. Grosbois
Parotid gland involvement, the presenting sign of high grade non-Hodgkin lymphoma in two patients with Gaucher disease and sicca syndrome
L. Shvidel, E. Sigler, M. Shtalrid, E. Feldberg, A. Berrebi
Treatment of Niemann–Pick disease type C in two children with miglustat: Initial responses and maintenance of effects over 1 year
Y.-H. Chien, N.-C. Lee, L.-K. Tsai, A.-C. Huang, S.-F. Peng, S.-J. Chen, W.-L. Hwu
Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency
A. Aeby, Y. Sznajer, H. Cavé, E. Rebuffat, R. Van Coster, O. Rigal, P. Van Bogaert
Effect of testosterone metabolites on ABC half-transporter relative gene expression in X-linked adrenoleukodystrophy
A. Petroni, M. Cappa, R. Carissimi, M. Blasevich, G. Uziel
Mevalonic aciduria: Report of two cases
J. R. Bretón Martínez, A. Cánovas Martínez, S. Casaña Pérez, J. Escribá Alepuz, F. Giménez Vázquez
Bilateral renal cell carcinoma development in long-term Fabry disease
D. Cassiman, K. Claes, E. Lerut, R. Oyen, S. Joniau, B. Van Damme, J. Jaeken
The natural history of Niemann–Pick disease type C in the UK
J. Imrie, S. Dasgupta, G. T. N. Besley, C. Harris, L. Heptinstall, S. Knight, M. T. Vanier, A. H. Fensom, C. Ward, E. Jacklin, C. Whitehouse, J. E. Wraith