Found: 13
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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
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- Article
Towards quality assurance in the determination of lysosomal enzymes: A two-centre study.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 571, doi. 10.1023/A:1025904132569
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- Article
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 543, doi. 10.1023/A:1025947930752
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- Article
Silent and symptomatic primary carnitine deficiency within the same family due toidentical mutations in the organic cation/carnitine transporter OCTN2.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 613, doi. 10.1023/A:1025968502527
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- Article
Neuroleptic malignant syndrome in juvenile neuronal ceroid lipofuscinosis associated with low-dose risperidone therapy.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 611, doi. 10.1023/A:1025916518457
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- Article
Prenatal diagnosis for arginase deficiency: A case study.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 607, doi. 10.1023/A:1025964401618
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- Article
Diagnosis of N-acetylglutamate synthase deficiency by use of cultured fibroblasts and avoidance of nonsense-mediated mRNA decay.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 601, doi. 10.1023/A:1025912417548
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- Article
Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNA<sup>Ser(UCN)</sup> gene.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 593, doi. 10.1023/A:1025960300710
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- Article
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed withmedium-chain triglycerides.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 583, doi. 10.1023/A:1025908216639
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- Article
A description of an HPLC assay of coproporphyrinogen III oxidase activity in mononuclear cells.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 565, doi. 10.1023/A:1025952031660
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- Article
Acute respiratory distress syndrome in long-chain 3-hydroxyacyl-CoA dehydrogenase and mitochondrial trifunctional protein deficiencies.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 537, doi. 10.1023/A:1025995813914
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- Article
Reversible posterior leukoencephalopathy syndrome in a child with cerebral X-linked adrenoleukodystrophy treated with cyclosporine after bone marrow transplantation.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 527, doi. 10.1023/A:1025943829843
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- Article
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005
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- Article