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G F Hoffmann

Showing results (191-200 of 214) with videos related to

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Journal of Medical Genetics|January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblastsD Haas, J Morgenthaler, F Lacbawan, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Glutaric aciduria type III: a distinctive non-disease?I Knerr, J Zschocke, U Trautmann, et al.
Journal of Mass Spectrometry : JMS|May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Neurology|May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSFB E Assmann, R O Robinson, R A H Surtees, et al.
Pediatric Radiology|February 5, 1999
Glutaric aciduria type I: ultrasonographic demonstration of early signsR Forstner, G F Hoffmann, I Gassner, et al.
Journal of Inherited Metabolic Disease|November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndromeE J Hager, H M Tse, J D Piganelli, et al.
Neurology|April 27, 2005
Leukoencephalopathy with ataxia, hypodontia, and hypomyelinationN I Wolf, I Harting, E Boltshauser, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|March 21, 2000
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, B U Fitzky, M Ogorelkova, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patientsR J Wanders, L Vilarinho, H P Hartung, et al.
Pageof 22

Showing results (191-200 of 214) with videos related to

Sort By:
Pageof 22
Journal of Medical Genetics|January 24, 2007
Abnormal sterol metabolism in holoprosencephaly: studies in cultured lymphoblastsD Haas, J Morgenthaler, F Lacbawan, et al.
Journal of Inherited Metabolic Disease|January 31, 2003
Glutaric aciduria type III: a distinctive non-disease?I Knerr, J Zschocke, U Trautmann, et al.
Journal of Mass Spectrometry : JMS|May 14, 2005
Measurement of bile acid CoA esters by high-performance liquid chromatography-electrospray ionisation tandem mass spectrometry (HPLC-ESI-MS/MS)H Gan-Schreier, J G Okun, D Kohlmueller, et al.
Neurology|May 26, 2004
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSFB E Assmann, R O Robinson, R A H Surtees, et al.
Pediatric Radiology|February 5, 1999
Glutaric aciduria type I: ultrasonographic demonstration of early signsR Forstner, G F Hoffmann, I Gassner, et al.
Journal of Inherited Metabolic Disease|November 17, 2007
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndromeE J Hager, H M Tse, J D Piganelli, et al.
Neurology|April 27, 2005
Leukoencephalopathy with ataxia, hypodontia, and hypomyelinationN I Wolf, I Harting, E Boltshauser, et al.
Journal of Inherited Metabolic Disease|July 17, 1999
A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)R A Wevers, J F de Rijk-van Andel, C Bräutigam, et al.
American Journal of Human Genetics|March 21, 2000
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeM Witsch-Baumgartner, B U Fitzky, M Ogorelkova, et al.
Journal of Inherited Metabolic Disease|November 5, 1997
L-2-Hydroxyglutaric aciduria: normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patientsR J Wanders, L Vilarinho, H P Hartung, et al.
Pageof 22