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C Jakobs

Showing results (311-320 of 417) with videos related to

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Journal of Inherited Metabolic Disease|January 1, 1995
Prenatal diagnosis for Canavan disease: the use of DNA markersR Matalon, R Kaul, G P Gao, et al.
The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.
European Journal of Pediatrics|July 1, 1994
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcificationsJ F Samson, P G Barth, J I de Vries, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyN I Wolf, D Haas, G F Hoffmann, et al.
Journal of Lipid Research|January 1, 1997
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentographyC G Costa, E A Struys, A Bootsma, et al.
Neurology|November 18, 1998
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann diseaseM R Baumgartner, N M Verhoeven, C Jakobs, et al.
Human Genetics|September 1, 1995
Molecular basis of phenotypic variation in patients with argininemiaT Uchino, S E Snyderman, M Lambert, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduriaM-H Read, C Bonamy, D Laloum, et al.
Neuropediatrics|June 10, 2005
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsyB Plecko, C Hikel, G-C Korenke, et al.
Journal of Lipid Research|January 1, 1992
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentographyH J ten Brink, F Stellaard, C M van den Heuvel, et al.
Pageof 42

Showing results (311-320 of 417) with videos related to

Sort By:
Pageof 42
Journal of Inherited Metabolic Disease|January 1, 1995
Prenatal diagnosis for Canavan disease: the use of DNA markersR Matalon, R Kaul, G P Gao, et al.
The Journal of Pediatrics|December 1, 1992
3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defectsK M Gibson, M J Bennett, C E Mize, et al.
European Journal of Pediatrics|July 1, 1994
Familial mitochondrial encephalopathy with fetal ultrasonographic ventriculomegaly and intracerebral calcificationsJ F Samson, P G Barth, J I de Vries, et al.
Journal of Inherited Metabolic Disease|July 13, 2004
Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiencyN I Wolf, D Haas, G F Hoffmann, et al.
Journal of Lipid Research|January 1, 1997
Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentographyC G Costa, E A Struys, A Bootsma, et al.
Neurology|November 18, 1998
Defective peroxisome biogenesis with a neuromuscular disorder resembling Werdnig-Hoffmann diseaseM R Baumgartner, N M Verhoeven, C Jakobs, et al.
Human Genetics|September 1, 1995
Molecular basis of phenotypic variation in patients with argininemiaT Uchino, S E Snyderman, M Lambert, et al.
Journal of Inherited Metabolic Disease|January 26, 2006
Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduriaM-H Read, C Bonamy, D Laloum, et al.
Neuropediatrics|June 10, 2005
Pipecolic acid as a diagnostic marker of pyridoxine-dependent epilepsyB Plecko, C Hikel, G-C Korenke, et al.
Journal of Lipid Research|January 1, 1992
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentographyH J ten Brink, F Stellaard, C M van den Heuvel, et al.
Pageof 42