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G F Hoffmann

Showing results (201-210 of 214) with videos related to

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Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Journal of Inherited Metabolic Disease|August 16, 2008
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndromeG Engelmann, J Meyburg, N Shahbek, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
Journal of Inherited Metabolic Disease|May 19, 2007
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in HeidelbergM Lindner, G Abdoh, J Fang-Hoffmann, et al.
Neuropediatrics|June 1, 1996
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, S Athanassopoulos, A B Burlina, et al.
Pageof 22

Showing results (201-210 of 214) with videos related to

Sort By:
Pageof 22
Neuropediatrics|November 5, 2003
Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamenS Kölker, G F Hoffmann, D S M Schor, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
D-2-hydroxyglutaric aciduria: further clinical delineationM S van der Knaap, C Jakobs, G F Hoffmann, et al.
American Journal of Human Genetics|June 23, 1998
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotypeP Guldberg, F Rey, J Zschocke, et al.
Journal of Inherited Metabolic Disease|August 16, 2008
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndromeG Engelmann, J Meyburg, N Shahbek, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
Neuropediatrics|March 17, 2006
Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiencyB Assmann, G Göhlich, M Baethmann, et al.
Magnetic Resonance in Medicine|October 25, 2001
beta-Ureidopropionase deficiency: a novel inborn error of metabolism discovered using NMR spectroscopy on urineS H Moolenaar, G Göhlich-Ratmann, U F Engelke, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutationsM Witsch-Baumgartner, E Ciara, J Löffler, et al.
Journal of Inherited Metabolic Disease|May 19, 2007
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in HeidelbergM Lindner, G Abdoh, J Fang-Hoffmann, et al.
Neuropediatrics|June 1, 1996
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, S Athanassopoulos, A B Burlina, et al.
Pageof 22