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G F Hoffmann

Showing results (171-180 of 214) with videos related to

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Human Genetics|June 21, 2001
Molecular and functional characterisation of mild MCAD deficiencyJ Zschocke, A Schulze, M Lindner, et al.
Journal of Inherited Metabolic Disease|July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophyV Prietsch, V Peters, R Hackler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical featuresM Köhler, B Assmann, C Bräutigam, et al.
Journal of Neuroscience Research|December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesisS Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?B Assmann, G F Hoffmann, L Wagner, et al.
Brain Research|October 13, 2001
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in ratsC F de Mello, S Kölker, B Ahlemeyer, et al.
Molecular Genetics and Metabolism|July 22, 2022
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiencyM Goetz, J Schröter, T Dattner, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiencyN G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease|January 24, 2002
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme levelA B Van Kuilenburg, H Van Lenthe, B Assmann, et al.
Neuropediatrics|April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathyV Peters, J M Penzien, G Reiter, et al.
Pageof 22

Showing results (171-180 of 214) with videos related to

Sort By:
Pageof 22
Human Genetics|June 21, 2001
Molecular and functional characterisation of mild MCAD deficiencyJ Zschocke, A Schulze, M Lindner, et al.
Journal of Inherited Metabolic Disease|July 18, 2002
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophyV Prietsch, V Peters, R Hackler, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Adenylosuccinase deficiency: possibly underdiagnosed encephalopathy with variable clinical featuresM Köhler, B Assmann, C Bräutigam, et al.
Journal of Neuroscience Research|December 18, 2001
3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesisS Kölker, J G Okun, F Hörster, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation?B Assmann, G F Hoffmann, L Wagner, et al.
Brain Research|October 13, 2001
Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in ratsC F de Mello, S Kölker, B Ahlemeyer, et al.
Molecular Genetics and Metabolism|July 22, 2022
Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiencyM Goetz, J Schröter, T Dattner, et al.
Journal of Inherited Metabolic Disease|July 15, 2000
Pathobiochemical implications of hyperdopaminuria in patients with aromatic L-amino acid decarboxylase deficiencyN G Abeling, C Bräutigam, G F Hoffmann, et al.
Journal of Inherited Metabolic Disease|January 24, 2002
Detection of beta-ureidopropionase deficiency with HPLC-electrospray tandem mass spectrometry and confirmation of the defect at the enzyme levelA B Van Kuilenburg, H Van Lenthe, B Assmann, et al.
Neuropediatrics|April 4, 2002
Congenital disorder of glycosylation IId (CDG-IId) -- a new entity: clinical presentation with Dandy-Walker malformation and myopathyV Peters, J M Penzien, G Reiter, et al.
Pageof 22