Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 5
Results: 16
Compromised fatty acid oxidation in mitochondrial disorders.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 613, doi. 10.1023/A:1005431424744
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Menkes disease: Underlying genetic defect and new diagnostic possibilities.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 604, doi. 10.1023/A:1005479307906
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The role of manganese superoxide dismutase in health and disease.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 598, doi. 10.1023/A:1005427323835
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Mutant CuZn superoxide dismutase in motor neuron disease.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 587, doi. 10.1023/A:1005475206997
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- Article
Murine mucopolysaccharidosis type VII: The impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 575, doi. 10.1023/A:1005423222927
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- Article
Metachromatic leukodystrophy: Molecular genetics and an animal model.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 564, doi. 10.1023/A:1005471106088
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Glycosphingolipid degradation and animal models of GM2-gangliosidoses.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 548, doi. 10.1023/A:1005419122018
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Animal models of lysosomal disease: An overview.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 540, doi. 10.1023/A:1005466905180
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Mouse models of genetic disease: New approaches, new paradigms.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 532, doi. 10.1023/A:1005414921109
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Therapeutic trials in the murine model of hereditary tyrosinaemia type I: A progress report.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 518, doi. 10.1023/A:1005462804271
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Tyrosinaemia type I and NTBC (2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione).
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 507, doi. 10.1023/A:1005410820201
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From toxicological problem to therapeutic use: The discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 498, doi. 10.1023/A:1005458703363
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Holoprosencephaly: A paradigm for the complex genetics of brain development.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 481, doi. 10.1023/A:1005406719292
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- Article
Sphingolipids and cell signalling.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 472, doi. 10.1023/A:1005454602454
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Komrower Lecture: Galactosaemia today: The enigma and the challenge.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 455, doi. 10.1023/A:1005402618384
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The 35th Annual Symposium of the SSIEM – Göteborg 1997.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 5, p. 453, doi. 10.1023/A:1005470501545
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