Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 4

Results: 17

Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 582, doi. 10.1007/s10545-009-1204-y

By:

Suzuki, Y.;
Aoyama, A.;
Kato, T.;
Shimozawa, N.;
Orii, T.

Publication type:

Article

Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 523, doi. 10.1007/s10545-009-1191-z

By:

Martín-Hernández, E.;
Lee, P. J.;
Micciche, A.;
Grunewald, S.;
Lachmann, R. H.

Publication type:

Article

Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 506, doi. 10.1007/s10545-009-1152-6

By:

Langenbeck, U.;
Burgard, P.;
Wendel, U.;
Lindner, M.;
Zschocke, J.

Publication type:

Article

In response to van Spronsen et al (2009) Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27–31).

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 584, doi. 10.1007/s10545-009-9959-8

By:

Ponzone, Alberto;
Mussa, Alessandro;
Porta, Francesco

Publication type:

Article

Mortality and cause of death in mucopolysaccharidosis type II—a historical review based on data from the Hunter Outcome Survey (HOS).

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 534, doi. 10.1007/s10545-009-1119-7

By:

Jones, S. A.;
Almássy, Z.;
Beck, M.;
Burt, K.;
Clarke, J. T.;
Giugliani, R.;
Hendriksz, C.;
Kroepfl, T.;
Lavery, L.;
Lin, S.-P.;
Malm, G.;
Ramaswami, U.;
Tincheva, R.;
Wraith, J. E.

Publication type:

Article

Inherited disorders in the conversion of methionine to homocysteine.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 459, doi. 10.1007/s10545-009-1146-4

By:

Barić, Ivo

Publication type:

Article

Serum phenylalanine concentrations in patients post trauma and burn correlate to neopterin concentrations.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 587, doi. 10.1007/s10545-009-9960-2

By:

Scholl-Buergi, S.;
Neurauter, G.;
Karall, D.;
Fuchs, D.

Publication type:

Article

Sleep-related breathing in children with mucopolysaccharidosis.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 544, doi. 10.1007/s10545-009-1170-4

By:

Nashed, A.;
Al-Saleh, S.;
Gibbons, J.;
MacLusky, I.;
MacFarlane, J.;
Riekstins, A.;
Clarke, J.;
Narang, I.

Publication type:

Article

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 551, doi. 10.1007/s10545-009-1178-9

By:

Hůlková, H.;
Ledvinová, J.;
Poupětová, H.;
Kohout, A.;
Malinová, V.;
Elleder, M.

Publication type:

Article

An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 560, doi. 10.1007/s10545-009-1151-7

By:

Arenas, M.;
Fairbanks, L. D.;
Vijayakumar, K.;
Carr, L.;
Escuredo, E.;
Marinaki, A. M.

Publication type:

Article

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: Assessing responsiveness in a model of statistical process control.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 514, doi. 10.1007/s10545-009-1070-7

By:

Lindner, M.;
Gramer, G.;
Garbade, S. F.;
Burgard, P.

Publication type:

Article

Coenzyme Q<sub>10</sub>is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 570, doi. 10.1007/s10545-009-1150-8

By:

Haas, D.;
Niklowitz, P.;
Hörster, F.;
Baumgartner, E. R.;
Prasad, C.;
Rodenburg, R. J.;
Hoffmann, G. F.;
Menke, T.;
Okun, J. G.

Publication type:

Article

Can we use statins to prevent stroke in Fabry disease?

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 481, doi. 10.1007/s10545-009-1156-2

By:

Politei, J. M.

Publication type:

Article

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 498, doi. 10.1007/s10545-009-1126-8

By:

Spiekerkoetter, U.;
Lindner, M.;
Santer, R.;
Grotzke, M.;
Baumgartner, M. R.;
Boehles, H.;
Das, A.;
Haase, C.;
Hennermann, J. B.;
Karall, D.;
de Klerk, H.;
Knerr, I.;
Koch, H. G.;
Plecko, B.;
Röschinger, W.;
Schwab, K. O.;
Scheible, D.;
Wijburg, F. A.;
Zschocke, J.;
Mayatepek, E.

Publication type:

Article

Large neutral amino acids supplementation in phenylketonuric patients.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 472, doi. 10.1007/s10545-009-1132-x

By:

Rocha, J. C.;
Martel, F.

Publication type:

Article

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 488, doi. 10.1007/s10545-009-1125-9

By:

Spiekerkoetter, U.;
Lindner, M.;
Santer, R.;
Grotzke, M.;
Baumgartner, M. R.;
Boehles, H.;
Das, A.;
Haase, C.;
Hennermann, J. B.;
Karall, D.;
de Klerk, H.;
Knerr, I.;
Koch, H. G.;
Plecko, B.;
Röschinger, W.;
Schwab, K. O.;
Scheible, D.;
Wijburg, F. A.;
Zschocke, J.;
Mayatepek, E.

Publication type:

Article

Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 4, p. 153, doi. 10.1007/s10545-007-0556-4

By:

Matalon, R.;
Michals-Matalon, K.;
Bhatia, G.;
Burlina, A.;
Braga, C.;
Fiori, L.;
Giovannini, M.;
Grechanina, E.;
Novikov, P.;
Grady, J.;
Tyring, S.;
Guttler, F.

Publication type:

Article