Works matching IS 01418955 AND DT 2008 AND VI 31 AND IP 2
Results: 16
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 217, doi. 10.1007/s10545-008-0844-7
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Sanfilippo syndrome: A mini-review.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 240, doi. 10.1007/s10545-008-0838-5
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Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 205, doi. 10.1007/s10545-008-0841-x
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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 230, doi. 10.1007/s10545-008-0826-9
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Disorders caused by deficiency of succinate-CoA ligase.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 226, doi. 10.1007/s10545-008-0828-7
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Liver cell transplantation for the treatment of inborn errors of metabolism.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 164, doi. 10.1007/s10545-008-0829-6
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Congenital disorders of glycosylation—a challenging group of IEMs.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 267, doi. 10.1007/s10545-008-0849-2
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Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 151, doi. 10.1007/s10545-008-0813-1
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The consequences of extended newborn screening programmes: Do we know who needs treatment?
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 173, doi. 10.1007/s10545-008-0843-8
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Molecular physiology and pathophysiology of lysosomal membrane transporters.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 258, doi. 10.1007/s10545-008-0879-9
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Molecular analysis of the GlcNac-1-phosphotransferase.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 253, doi. 10.1007/s10545-008-0862-5
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Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 270, doi. 10.1007/s10545-008-0856-3
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Inherited epithelial transporter disorders—an overview.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 178, doi. 10.1007/s10545-008-0861-6
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Apoprotein A-V: An important regulator of triglyceride metabolism.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 281, doi. 10.1007/s10545-008-0863-4
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- Article
Membrane translocation of glutaric acid and its derivatives.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 188, doi. 10.1007/s10545-008-0825-x
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Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.
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- Journal of Inherited Metabolic Disease, 2008, v. 31, n. 2, p. 194, doi. 10.1007/s10545-008-0823-z
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