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B Wortmann

Showing results (41-50 of 205) with videos related to

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Neuropediatrics|November 24, 2020
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative DisorderChristina T Rüsch, Saskia B Wortmann, Reka Kovacs-Nagy, et al.
Stem Cell Research|January 7, 2026
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 geneGemma Gasparini, Carolin Kraus, Ejona Rusha, et al.
The Laryngoscope|February 21, 2022
Mitochondrial Disease and Hearing Loss in Children: A Systematic ReviewSebastian Roesch, Anna O'Sullivan, Georg Zimmermann, et al.
Neuropediatrics|January 14, 2021
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and DeathJohanna Becker, Nikolaus A Haas, Stefan Vlaho, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Journal of Inherited Metabolic Disease|September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiencyE Morava, S B Wortmann, H Zweers van Essen, et al.
Neuropediatrics|October 6, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDGNastassja Himmelreich, Sven F Garbade, Jürgen G Okun, et al.
Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|August 30, 2011
Dosimetric feasibility study for an extracorporeal BNCT application on liver metastases at the TRIGA MainzM Blaickner, J V Kratz, S Minouchehr, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Orphanet Journal of Rare Diseases|July 22, 2018
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyAmelie S Lotz-Havla, Wulf Röschinger, Katharina Schiergens, et al.
Pageof 21

Showing results (41-50 of 205) with videos related to

Sort By:
Pageof 21
Neuropediatrics|November 24, 2020
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative DisorderChristina T Rüsch, Saskia B Wortmann, Reka Kovacs-Nagy, et al.
Stem Cell Research|January 7, 2026
Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 geneGemma Gasparini, Carolin Kraus, Ejona Rusha, et al.
The Laryngoscope|February 21, 2022
Mitochondrial Disease and Hearing Loss in Children: A Systematic ReviewSebastian Roesch, Anna O'Sullivan, Georg Zimmermann, et al.
Neuropediatrics|January 14, 2021
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and DeathJohanna Becker, Nikolaus A Haas, Stefan Vlaho, et al.
JIMD Reports|May 8, 2023
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire studySarah C Grünert, Annieke Venema, Jamas LaFreniere, et al.
Journal of Inherited Metabolic Disease|September 10, 2005
Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiencyE Morava, S B Wortmann, H Zweers van Essen, et al.
Neuropediatrics|October 6, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDGNastassja Himmelreich, Sven F Garbade, Jürgen G Okun, et al.
Applied Radiation and Isotopes : Including Data, Instrumentation and Methods for Use in Agriculture, Industry and Medicine|August 30, 2011
Dosimetric feasibility study for an extracorporeal BNCT application on liver metastases at the TRIGA MainzM Blaickner, J V Kratz, S Minouchehr, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
Orphanet Journal of Rare Diseases|July 22, 2018
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyAmelie S Lotz-Havla, Wulf Röschinger, Katharina Schiergens, et al.
Pageof 21