Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

G F Hoffmann

Showing results (181-190 of 214) with videos related to

Pageof 22
Sort By:
The Journal of Pediatrics|February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapyC Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
Annals of Human Genetics|April 3, 2001
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorderR J Janssen, R A Wevers, M Häussler, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 15, 1991
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detectionG F Hoffmann, L Sweetman, H J Bremer, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
Diagnosis and management of glutaric aciduria type II Barić, J Zschocke, E Christensen, et al.
Journal of Inherited Metabolic Disease|September 5, 2009
Inborn errors of metabolism and motor disturbances in childrenA García-Cazorla, N I Wolf, M Serrano, et al.
American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.
Annals of Neurology|July 1, 1992
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic diseaseP G Barth, G F Hoffmann, J Jaeken, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, H J Böhles, A Burlina, et al.
Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.
Pageof 22

Showing results (181-190 of 214) with videos related to

Sort By:
Pageof 22
The Journal of Pediatrics|February 7, 2001
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapyC Dionisi-Vici, G F Hoffmann, V Leuzzi, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenaseP G Barth, G F Hoffmann, J Jaeken, et al.
Annals of Human Genetics|April 3, 2001
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorderR J Janssen, R A Wevers, M Häussler, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 15, 1991
Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detectionG F Hoffmann, L Sweetman, H J Bremer, et al.
Journal of Inherited Metabolic Disease|August 13, 1998
Diagnosis and management of glutaric aciduria type II Barić, J Zschocke, E Christensen, et al.
Journal of Inherited Metabolic Disease|September 5, 2009
Inborn errors of metabolism and motor disturbances in childrenA García-Cazorla, N I Wolf, M Serrano, et al.
American Journal of Human Genetics|July 27, 1999
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestryD D Hinson, R M Ross, S Krisans, et al.
Annals of Neurology|July 1, 1992
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic diseaseP G Barth, G F Hoffmann, J Jaeken, et al.
Journal of Inherited Metabolic Disease|January 1, 1995
Early signs and course of disease of glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, H J Böhles, A Burlina, et al.
Pediatrics|December 1, 1991
Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathyG F Hoffmann, F K Trefz, P G Barth, et al.
Pageof 22