Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 1

Results: 19

Tetrahydrobiopterin in intestinal lumen: Its absorption and secretion in the small intestine and the elimination in the large intestine.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 79, doi. 10.1007/s10545-008-0964-0

By:

Sawabe, K.;
Saeki, Y.;
Ohashi, A.;
Mamada, K.;
Wakasugi, K.;
Matsuoka, H.;
Hasegawa, H.

Publication type:

Article

H2O2 increases de novo synthesis of (6 R)- L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 86, doi. 10.1007/s10545-008-0971-1

By:

Chavan, B.;
Beazley, W.;
Wood, J.;
Rokos, H.;
Ichinose, H.;
Schallreuter, K.

Publication type:

Article

Developmental changes of oxalate excretion in enterally fed preterm infants.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 102, doi. 10.1007/s10545-008-1024-5

By:

Illsinger, S.;
Lücke, T.;
Vaske, B.;
Schmidt, K.-H.;
Bohnhorst, B.;
Das, A.

Publication type:

Article

Effect of BH4 supplementation on phenylalanine tolerance.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 40, doi. 10.1007/s10545-008-0947-1

By:

Burlina, A.;
Blau, N.

Publication type:

Article

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 95, doi. 10.1007/s10545-008-1047-y

By:

Walter, J.;
Patterson, A.;
Till, J.;
Besley, G.;
Fleming, G.;
Henderson, M.

Publication type:

Article

PKU—What is daily practice in various centres in Europe?

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 58, doi. 10.1007/s10545-008-0966-y

By:

Spronsen, F.;
Ahring, K.;
Gizewska, M.

Publication type:

Article

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 46, doi. 10.1007/s10545-008-0946-2

By:

Spronsen, F.;
Hoeksma, Marieke;
Reijngoud, Dirk-Jan

Publication type:

Article

Tetrahydrobiopterin in biomedical research.

Published in:

2009

By:

Blau, Nenad;
Thöny, Beat

Publication type:

Editorial

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

Published in:

2009

By:

Fowler, B.;
Burlina, A.;
Kožich, V.;
Vianey-Saban, C.

Publication type:

Correction Notice

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 27, doi. 10.1007/s10545-008-0937-3

By:

Spronsen, F.;
Rijn, M.;
Dorgelo, B.;
Hoeksma, M.;
Bosch, A.;
Mulder, M.;
Klerk, J.;
Koning, T.;
Rubio-Gozalbo, M.;
Vries, M.;
Verkerk, P.

Publication type:

Article

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 109, doi. 10.1007/s10545-008-0969-8

By:

Steinberg, S.;
Snowden, A.;
Braverman, N.;
Chen, L.;
Watkins, P.;
Clayton, P.;
Setchell, K.;
Heubi, J.;
Raymond, G.;
Moser, A.;
Moser, H.

Publication type:

Article

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 52, doi. 10.1007/s10545-008-0955-1

By:

Gramer, G.;
Garbade, S.;
Blau, N.;
Lindner, M.

Publication type:

Article

Transcellular relocation of tetrahydrobiopterin across Caco-2 cells: A model study of tetrahydrobiopterin absorption through epithelial cells of intestinal mucosa.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 73, doi. 10.1007/s10545-008-0961-3

By:

Ohashi, A.;
Fukumuro, M.;
Sawabe, K.;
Mamada, K.;
Sugawara, Y.;
Matsuoka, H.;
Hasegawa, H.

Publication type:

Article

Nutritional management of PKU with glycomacropeptide from cheese whey.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 32, doi. 10.1007/s10545-008-0952-4

By:

Ney, D.;
Gleason, S.;
Calcar, S.;
MacLeod, E.;
Nelson, K.;
Etzel, M.;
Rice, G.;
Wolff, J.

Publication type:

Article

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 22, doi. 10.1007/s10545-008-0940-8

By:

Trefz, F.;
Scheible, D.;
Götz, H.;
Frauendienst-Egger, G.

Publication type:

Article

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 10, doi. 10.1007/s10545-008-0942-6

By:

Dobrowolski, S.;
Pey, A.;
Koch, R.;
Levy, H.;
Ellingson, C.;
Naylor, E.;
Martinez, A.

Publication type:

Article

What we know that could influence future treatment of phenylketonuria.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 3, doi. 10.1007/s10545-008-0917-7

By:

Sarkissian, C.;
Gámez, A.;
Scriver, C.

Publication type:

Article

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

Published in:

2009

By:

Bik-Multanowski, M.;
Didycz, B.;
Mozrzymas, R.;
Nowacka, M.;
Kaluzny, L.;
Cichy, W.;
Schneiberg, B.;
Amilkiewicz, J.;
Bilar, A.;
Gizewska, M.;
Lange, A.;
Starostecka, E.;
Chrobot, A.;
Wojcicka-Bartlomiejczyk, B.;
Milanowski, A.

Publication type:

Correction Notice

Tetrahydrobiopterin deficiency in human rabies.

Published in:

Journal of Inherited Metabolic Disease, 2009, v. 32, n. 1, p. 65, doi. 10.1007/s10545-008-0949-z

By:

Willoughby, R.;
Opladen, T.;
Maier, T.;
Rhead, W.;
Schmiedel, S.;
Hoyer, J.;
Drosten, C.;
Rupprecht, C.;
Hyland, K.;
Hoffmann, G.

Publication type:

Article

Works matching IS 01418955 AND DT 2009 AND VI 32 AND IP 1

Tetrahydrobiopterin in intestinal lumen: Its absorption and secretion in the small intestine and the elimination in the large intestine.

H<sub>2</sub>O<sub>2</sub> increases de novo synthesis of (6 R)- L-erythro-5,6,7,8-tetrahydrobiopterin via GTP cyclohydrolase I and its feedback regulatory protein in vitiligo.

Developmental changes of oxalate excretion in enterally fed preterm infants.

Effect of BH<sub>4</sub> supplementation on phenylalanine tolerance.

Bloodspot acylcarnitine and amino acid analysis in cord blood samples: efficacy and reference data from a large cohort study.

PKU—What is daily practice in various centres in Europe?

Brain dysfunction in phenylketonuria: Is phenylalanine toxicity the only possible cause?

Tetrahydrobiopterin in biomedical research.

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU.

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria.

Transcellular relocation of tetrahydrobiopterin across Caco-2 cells: A model study of tetrahydrobiopterin absorption through epithelial cells of intestinal mucosa.

Nutritional management of PKU with glycomacropeptide from cheese whey.

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

What we know that could influence future treatment of phenylketonuria.

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet.

Tetrahydrobiopterin deficiency in human rabies.