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Showing results (361-370 of 417) with videos related to

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Molecular Genetics and Metabolism|March 13, 2001
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analysesB M Hogema, S Akaboshi, M Taylor, et al.
NMR in Biomedicine|May 18, 2001
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolismS H Moolenaar, M S van der Knaap, U F Engelke, et al.
Annals of Neurology|December 10, 1999
Leukoencephalopathy associated with a disturbance in the metabolism of polyolsM S van der Knaap, R A Wevers, E A Struys, et al.
Journal of Inherited Metabolic Disease|January 28, 2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and menP L Pearl, K M Gibson, M A Cortez, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 27, 1999
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defectsF V Ventura, C G Costa, E A Struys, et al.
European Journal of Biochemistry|July 8, 1998
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondriaF V Ventura, L Ijlst, J Ruiter, et al.
European Journal of Clinical Investigation|March 1, 1995
Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive diseaseM Van den Berg, G H Boers, D G Franken, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyN M Verhoeven, M Wallot, J H J Huck, et al.
Journal of Inherited Metabolic Disease|January 9, 2009
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-upK Kusmierska, E E W Jansen, C Jakobs, et al.
European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
Pageof 42

Showing results (361-370 of 417) with videos related to

Sort By:
Pageof 42
Molecular Genetics and Metabolism|March 13, 2001
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analysesB M Hogema, S Akaboshi, M Taylor, et al.
NMR in Biomedicine|May 18, 2001
In vivo and in vitro NMR spectroscopy reveal a putative novel inborn error involving polyol metabolismS H Moolenaar, M S van der Knaap, U F Engelke, et al.
Annals of Neurology|December 10, 1999
Leukoencephalopathy associated with a disturbance in the metabolism of polyolsM S van der Knaap, R A Wevers, E A Struys, et al.
Journal of Inherited Metabolic Disease|January 28, 2009
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and menP L Pearl, K M Gibson, M A Cortez, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|April 27, 1999
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defectsF V Ventura, C G Costa, E A Struys, et al.
European Journal of Biochemistry|July 8, 1998
Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondriaF V Ventura, L Ijlst, J Ruiter, et al.
European Journal of Clinical Investigation|March 1, 1995
Hyperhomocysteinaemia and endothelial dysfunction in young patients with peripheral arterial occlusive diseaseM Van den Berg, G H Boers, D G Franken, et al.
Journal of Inherited Metabolic Disease|May 7, 2005
A newborn with severe liver failure, cardiomyopathy and transaldolase deficiencyN M Verhoeven, M Wallot, J H J Huck, et al.
Journal of Inherited Metabolic Disease|January 9, 2009
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-upK Kusmierska, E E W Jansen, C Jakobs, et al.
European Journal of Biochemistry|June 24, 2000
Phytanoyl-CoA hydroxylase activity is induced by phytanic acidA W Zomer, G A Jansen, B Van Der Burg, et al.
Pageof 42