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

Georg F Hoffmann

Showing results (111-120 of 381) with videos related to

Pageof 39
Sort By:
Nature Medicine|December 14, 2011
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in miceAnette Schneider, Christian Thiel, Jan Rindermann, et al.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
Pediatric Neurology|November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapyBernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
Children (Basel, Switzerland)|January 21, 2023
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional StudyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 24, 2004
Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patientsKarin Stiasny-Kolster, J Carsten Möller, Johannes Zschocke, et al.
Brain : a Journal of Neurology|December 31, 2015
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolismDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Stem Cell Research|May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism|July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiencyHeiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Metabolites|February 25, 2023
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric AciduriaElaine Zaunseder, Ulrike Mütze, Sven F Garbade, et al.
Stem Cell Research|August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Pageof 39

Showing results (111-120 of 381) with videos related to

Sort By:
Pageof 39
Nature Medicine|December 14, 2011
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in miceAnette Schneider, Christian Thiel, Jan Rindermann, et al.
Plos One|April 9, 2020
FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysisSven F Garbade, Matthias Zielonka, Konstantin Mechler, et al.
Pediatric Neurology|November 1, 2006
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapyBernard Echenne, Agathe Roubertie, Birgit Assmann, et al.
Children (Basel, Switzerland)|January 21, 2023
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional StudyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|February 24, 2004
Normal dopaminergic and serotonergic metabolites in cerebrospinal fluid and blood of restless legs syndrome patientsKarin Stiasny-Kolster, J Carsten Möller, Johannes Zschocke, et al.
Brain : a Journal of Neurology|December 31, 2015
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolismDarius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, et al.
Stem Cell Research|May 31, 2022
Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Molecular Genetics and Metabolism|July 18, 2020
Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiencyHeiko Brennenstuhl, Sven F Garbade, Jürgen G Okun, et al.
Metabolites|February 25, 2023
Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric AciduriaElaine Zaunseder, Ulrike Mütze, Sven F Garbade, et al.
Stem Cell Research|August 5, 2022
Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathyJulian Schröter, Hanna Syring, Gudrun Göhring, et al.
Pageof 39