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C Jakobs

Showing results (301-310 of 417) with videos related to

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Journal of Inherited Metabolic Disease|July 1, 1997
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitinesF V Ventura, C G Costa, L IJlst, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Familial encephalopathy and L-2-hydroxyglutaric aciduriaN Kaabachi, A Larnaout, D Rabier, et al.
European Journal of Pediatrics|March 29, 2001
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcomeE Lopriore, R J Gemke, N M Verhoeven, et al.
Journal of Child Neurology|March 1, 1995
D-2-hydroxyglutaric aciduriaW L Nyhan, G D Shelton, C Jakobs, et al.
British Journal of Haematology|February 1, 2006
Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trapY M Smulders, D E C Smith, R M Kok, et al.
Pediatric Research|September 1, 1993
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemiasK M Gibson, H J ten Brink, D S Schor, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autismP Póo-Argüelles, A Arias, M A Vilaseca, et al.
Human Reproduction (Oxford, England)|June 22, 1999
Haemostatic and metabolic abnormalities in women with unexplained recurrent abortionA B Coumans, P C Huijgens, C Jakobs, et al.
Annals of Neurology|March 23, 2001
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?K M Cecil, G S Salomons, W S Ball, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysisM J Bennett, K M Gibson, W G Sherwood, et al.
Pageof 42

Showing results (301-310 of 417) with videos related to

Sort By:
Pageof 42
Journal of Inherited Metabolic Disease|July 1, 1997
Broad specificity of carnitine palmitoyltransferase II towards long-chain acyl-CoA beta-oxidation intermediates and its practical approach to the synthesis of various long-chain acylcarnitinesF V Ventura, C G Costa, L IJlst, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Familial encephalopathy and L-2-hydroxyglutaric aciduriaN Kaabachi, A Larnaout, D Rabier, et al.
European Journal of Pediatrics|March 29, 2001
Carnitine-acylcarnitine translocase deficiency: phenotype, residual enzyme activity and outcomeE Lopriore, R J Gemke, N M Verhoeven, et al.
Journal of Child Neurology|March 1, 1995
D-2-hydroxyglutaric aciduriaW L Nyhan, G D Shelton, C Jakobs, et al.
British Journal of Haematology|February 1, 2006
Cellular folate vitamer distribution during and after correction of vitamin B12 deficiency: a case for the methylfolate trapY M Smulders, D E C Smith, R M Kok, et al.
Pediatric Research|September 1, 1993
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemiasK M Gibson, H J ten Brink, D S Schor, et al.
Journal of Inherited Metabolic Disease|April 8, 2006
X-Linked creatine transporter deficiency in two patients with severe mental retardation and autismP Póo-Argüelles, A Arias, M A Vilaseca, et al.
Human Reproduction (Oxford, England)|June 22, 1999
Haemostatic and metabolic abnormalities in women with unexplained recurrent abortionA B Coumans, P C Huijgens, C Jakobs, et al.
Annals of Neurology|March 23, 2001
Irreversible brain creatine deficiency with elevated serum and urine creatine: a creatine transporter defect?K M Cecil, G S Salomons, W S Ball, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): comparison of enzymatic and metabolite analysisM J Bennett, K M Gibson, W G Sherwood, et al.
Pageof 42