Works matching IS 01418955 AND DT 2004 AND VI 27 AND IP 6

Results: 37

Frontmatter.

Published in:: Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. i, doi. 10.1023/B:BOLI.0000045846.55841.1f
Publication type:: Article

Subject Index to Volume 27.

Published in:: Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 931, doi. 10.1023/B:BOLI.0000045845.16899.e7
Publication type:: Article

Author Index to Volume 27.

Published in:: Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 927, doi. 10.1023/B:BOLI.0000045844.64289.f0
Publication type:: Article

Proceedings in Glutaryl-CoA Delhydrogenase Deficiency.

Published in:: 2004
Publication type:: Editorial

Book Reviews: Lysosomal disorders of the brain: Recent advances in molecular and cellular pathogenesis and treatment.

Published in:: 2004
Publication type:: Book Review

Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 767, doi. 10.1023/B:BOLI.0000045799.78633.23

By:

Bertelli, M.;
Randi, D.;
Micheli, V.;
Gallo, S.;
Andrighetto, G.;
Parmigiani, P.;
Jacomelli, G.;
Carella, M.;
Lievore, C.;
Pandolfo, M.

Publication type:

Article

Isobutyryl-CoA dehydrogenase deficiency: Isobutyrylglycinuria and ACAD8 gene mutations in two infants.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 741, doi. 10.1023/B:BOLI.0000045798.12425.1b

By:

Sass, J.;
Sander, S.;
Zschocke, J.

Publication type:

Article

Mutational analysis of carbamoylphosphate synthetase I deficiency in three Japanese patients.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 787, doi. 10.1023/B:BOLI.0000045842.59768.ea

By:

Wakutani, Y.;
Nakayasu, H.;
Takeshima, T.;
Adachi, M.;
Kawataki, M.;
Kihira, K.;
Sawada, H.;
Bonno, M.;
Yamamoto, H.;
Nakashima, K.

Publication type:

Article

Looking forward—An evidence-based approach to glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 921, doi. 10.1023/B:BOLI.0000045778.73581.7d

By:

KÖlker, S.;
Burgard, P.;
Okun, J.;
Schulze-Bergkamen, A.;
Assmann, B.;
Greenberg, C.;
Hoffmann, G.

Publication type:

Article

Glutaric aciduria type I: Outcome in the Republic of Ireland.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 917, doi. 10.1023/B:BOLI.0000045777.82784.74

By:

Naughten, E.;
Mayne, P.;
Monavari, A.;
Goodman, S.;
Sulaiman, G.;
Croke, D.

Publication type:

Article

Management of movement disorders in glutaryl-CoA dehydrogenase deficiency: Anticholinergic drugs and botulinum toxin as additional therapeutic options.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 911, doi. 10.1023/B:BOLI.0000045776.50573.52

By:

Burlina, A.;
Zara, G.;
Hoffmann, G.;
Zschocke, J.

Publication type:

Article

Reduction of lysine intake while avoiding malnutrition—Major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 903, doi. 10.1023/B:BOLI.0000045775.03183.48

By:

Müller, E.;
KÖlker, S.

Publication type:

Article

Emergency treatment in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 893, doi. 10.1023/B:BOLI.0000045774.51260.ea

By:

KÖlker, S.;
Greenberg, C.;
Lindner, M.;
Müller, E.;
Naughten, E.;
Hoffmann, G.

Publication type:

Article

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 885, doi. 10.1023/B:BOLI.0000045773.07785.83

By:

Mühlhausen, C.;
Hoffmann, G.;
Strauss, K.;
KÖlker, S.;
Okun, J.;
Greenberg, C.;
Naughten, E.;
Ullrich, K.

Publication type:

Article

Nuclear magnetic resonance spectroscopy in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 877, doi. 10.1023/B:BOLI.0000045772.09776.e0

By:

Bodamer, O.;
Gruber, S.;
StÖckler-Ipsiroglu, S.

Publication type:

Article

Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency).

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 869, doi. 10.1023/B:BOLI.0000045771.66300.2a

By:

Neumaier-Probst, E.;
Harting, I.;
Seitz, A.;
Ding, C.;
Kolker, S.

Publication type:

Article

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 861, doi. 10.1023/B:BOLI.0000045770.93429.3c

By:

Christensen, E.;
Ribes, A.;
Merinero, B.;
Zschocke, J.

Publication type:

Article

Neonatal screening for glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 851, doi. 10.1023/B:BOLI.0000045769.96657.af

By:

Lindner, M.;
KÖlker, S.;
Schulze, A.;
Christensen, E.;
Greenberg, C.;
Hoffmann, G.

Publication type:

Article

Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 843, doi. 10.1023/B:BOLI.0000045768.38073.22

By:

KÖlker, S.;
Strauss, K.;
Goodman, S.;
Hoffmann, G.;
Okun, J.;
Koeller, D.

Publication type:

Article

Glutaric aciduria type I and kynurenine pathway metabolites: A modified hypothesis.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 835, doi. 10.1023/B:BOLI.0000045767.42193.97

By:

Varadkar, S.;
Surtees, R.

Publication type:

Article

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 829, doi. 10.1023/B:BOLI.0000045766.98718.d6

By:

Mühlhausen, C.;
Ergün, S.;
Strauss, K.;
Koeller, D.;
Crnic, L.;
Woontner, M.;
Goodman, S.;
Ullrich, K.;
Braulke, T.

Publication type:

Article

Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 825, doi. 10.1023/B:BOLI.0000045765.37043.fb

By:

Wajner, M.;
KÖlker, S.;
Souza, D.;
Hoffmann, G.;
de Mello, C.

Publication type:

Article

Preliminary attempts to establish a rat model of striatal injury in glutaric acidaemia type I.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 819, doi. 10.1023/B:BOLI.0000045764.14721.b6

By:

Funk, C.;
Prasad, A.;
Bigio, M.

Publication type:

Article

Animal models for glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 813, doi. 10.1023/B:BOLI.0000045763.52907.5e

By:

Koeller, D.;
Sauer, S.;
Wajner, M.;
de Mello, C.;
Goodman, S.;
Woontner, M.;
Mühlhausen, C.;
Okun, J.;
KÖlker, S.

Publication type:

Article

Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 805, doi. 10.1023/B:BOLI.0000045762.37248.28

By:

KÖlker, S.;
Koeller, D.;
Sauer, S.;
HÖrster, F.;
Schwab, M.;
Hoffmann, G.;
Ullrich, K.;
Okun, J.

Publication type:

Article

Development of pathogenic concepts in glutaryl-CoA dehydrogenase deficiency: The challenge.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 801, doi. 10.1023/B:BOLI.0000045761.01465.47

By:

Goodman, S.

Publication type:

Article

Assessing the severity of the small inframe deletion mutation in the α-subunit of β-hexosaminidase A found in the Turkish population by reproducing it in the more stable β-subunit.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 747, doi. 10.1023/B:BOLI.0000045759.12935.76

By:

Sinici, İ.;
Tropak, M.;
Mahuran, D.;
Özkara, H.

Publication type:

Article

Maternal Phenylketonuria Collaborative Study (MPKUCS)—The 'outliers'.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 711, doi. 10.1023/B:BOLI.0000045758.86492.54

By:

Hanley, W.;
Azen, C.;
Koch, R.;
Michals-Matalon, K.;
Matalon, R.;
Rouse, B.;
Trefz, F.;
Waisbren, S.;
de la Cruz, F.

Publication type:

Article

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 757, doi. 10.1023/B:BOLI.0000045756.54006.17

By:

Elstein, D.;
Hollak, C.;
Aerts, J.;
van Weely, S.;
Maas, M.;
Cox, T.;
Lachmann, R.;
Hrebicek, M.;
Platt, F.;
Butters, T.;
Dwek, R.;
Zimran, A.

Publication type:

Article

Raised HDL cholesterol in Fabry disease: Response to enzyme replacement therapy.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 791, doi. 10.1023/B:BOLI.0000045841.27968.06

By:

Cartwright, D.;
Cole, A.;
Cousins, A.;
Lee, P.

Publication type:

Article

Two successful pregnancies in pyridoxine-nonresponsive homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 775, doi. 10.1023/B:BOLI.0000045840.18383.25

By:

Vilaseca, M.;
Cuartero, M.;
Martinez de Salinas, M.;
Lambruschini, N.;
Pintó, X.;
Urreizti, R.;
Balcells, S.;
Grinberg, D.

Publication type:

Article

NPT4, a new microsomal phosphate transporter: Mutation analysis in glycogen storage disease type Ic.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 725, doi. 10.1023/B:BOLI.0000045755.89308.2f

By:

Melis, D.;
Havelaar, A.;
Verbeek, E.;
Smit, G.;
Benedetti, A.;
Mancini, G.;
Verheijen, F.

Publication type:

Article

Hyperhydroxyprolinaemia detected in newborn screening with tandem mass spectrometry.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 781, doi. 10.1023/B:BOLI.0000045839.08631.9d

By:

Baykal, T.;
Karaaslan, I.;
Gokcay, G.;
Demir, F.;
Laleli, Y.;
Demirkol, M.

Publication type:

Article

S-Acetylglutathione normalizes intracellular glutathione content in cultured fibroblasts from patients with glutathione synthetase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 783, doi. 10.1023/B:BOLI.0000045838.65498.ff

By:

Okun, J.;
Sauer, S.;
Bähr, S.;
Lenhartz, H.;
Mayatepek, E.

Publication type:

Article

Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 778, doi. 10.1023/B:BOLI.0000045837.23328.f4

By:

Makhseed, N.;
Vallance, H.D.;
Potter, M.;
Waters, P.J.;
Wong, L.T.K.;
Lillquist, Y.;
Pasquali, M.;
Filippo, C.;
Longo, N.

Publication type:

Article

Stability of malonylcarnitine and glutarylcarnitine in stored blood spots.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 789, doi. 10.1023/B:BOLI.0000045830.82698.90

By:

Johnson, D.;
Trinh>, M.-U.

Publication type:

Article

Congenital cardiomyopathy and pulmonary hypertension: Another fatal variant of cytochrome- c oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 735, doi. 10.1023/B:BOLI.0000045711.89888.5e

By:

Venditti, C.;
Harris, M.;
Huff, D.;
Peterside, I.;
Munson, D.;
Weber, H.;
Rome, J.;
Kaye, E.;
Shanske, S.;
Sacconi, S.;
Tay, S.;
DiMauro, S.;
Berry, G.

Publication type:

Article