Works matching IS 01418955 AND DT 2003 AND VI 26 AND IP 6

Results: 13

Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 613, doi. 10.1023/A:1025968502527

By:

Spiekerkoetter, U.;
Huener, G.;
Baykal, T.;
Demirkol, M.;
Duran, M.;
Wanders, R.;
Nezu, J.;
Mayatepek, E.

Publication type:

Article

Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 611, doi. 10.1023/A:1025916518457

By:

Vercammen, L.;
Buyse, G.;
Proost, J.;
Van Hove, J.

Publication type:

Article

Prenatal diagnosis for arginase deficiency: A case study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 607, doi. 10.1023/A:1025964401618

By:

Hewson, S.;
Clarke, J.;
Cederbaum, S.

Publication type:

Article

Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 601, doi. 10.1023/A:1025912417548

By:

Häberle, J.;
Denecke, J.;
Schmidt, E.;
Koch, H.

Publication type:

Article

Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNA<sup>Ser(UCN)</sup> gene.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 593, doi. 10.1023/A:1025960300710

By:

Grafakou, O.;
Hol, F.;
Otfried Schwab, K.;
Siers, M.;
Ter Laak, H.;
Trijbels, F.;
Ensenauer, R.;
Boelen, C.;
Smeitink, J.

Publication type:

Article

Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 583, doi. 10.1023/A:1025908216639

By:

Muth, A.;
Mosandl, A.;
Wanders, R.;
Nowaczyk, M.;
Baric, I.;
Böhles, H.;
Sewell, A.

Publication type:

Article

Towards quality assurance in the determination of lysosomal enzymes: A two-centre study.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 571, doi. 10.1023/A:1025904132569

By:

Lukacs, Z.;
Keil, A.;
Peters, V.;
Kohlschütter, A.;
Hoffmann, G.;
Cantz, M.;
Kopitz, J.

Publication type:

Article

A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 565, doi. 10.1023/A:1025952031660

By:

Gross, U.;
Gerlach, R.;
Kühnel, A.;
Seifert, V.;
Doss, M.

Publication type:

Article

GLUT-1 deficiency without epilepsy—an exceptional case.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 559, doi. 10.1023/A:1025999914822

By:

Overweg-Plandsoen, W.;
Groener, J.;
Wang, D.;
Onkenhout, W.;
Brouwer, O.;
Bakker, H.;
De Vivo, D.

Publication type:

Article

Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 543, doi. 10.1023/A:1025947930752

By:

Olpin, S.;
Afifi, A.;
Clark, S.;
Manning, N.;
Bonham, J.;
Dalton, A.;
Leonard, J.;
Land, J.;
Andresen, B.;
Morris, A.;
Muntoni, F.;
Turnbull, D.;
Pourfarzam, M.;
Rahman, S.;
Pollitt, R.

Publication type:

Article

Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 537, doi. 10.1023/A:1025995813914

By:

Lundy, C.;
Shield, J.;
Kvittingen, E.;
Vinorum, O.;
Trimble, E.;
Morris, A.

Publication type:

Article

Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 527, doi. 10.1023/A:1025943829843

By:

Chan, A.;
Bhargava, R.;
Desai, S.;
Joffe, A.

Publication type:

Article

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.

Published in:

Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005

By:

Cox, T.;
Aerts, J.;
Andria, G.;
Beck, M.;
Belmatoug, N.;
Bembi, B.;
Chertkoff, R.;
Vom Dahl, S.;
Elstein, D.;
Erikson, A.;
Giralt, M.;
Heitner, R.;
Hollak, C.;
Hrebicek, M.;
Lewis, S.;
Mehta, A.;
Pastores, G.;
Rolfs, A.;
Sa Miranda, M.;
Zimran, A.

Publication type:

Article