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Konstantinos Tsiakas

Showing results (1-10 of 26) with videos related to

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Ophthalmic Genetics|October 27, 2020
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)Simon Dulz, Yevgeniya Atiskova, Peter Engel, et al.
Molecular Genetics and Metabolism Reports|June 5, 2023
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitorsSimona Murko, Manuela Peschka, Konstantinos Tsiakas, et al.
Genes|November 27, 2021
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) VariantsSarah C Grünert, Anke Schumann, Federico Baronio, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 24, 2017
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0aTill Holsten, Konstantinos Tsiakas, Uwe Kordes, et al.
Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|January 31, 2014
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literatureEnke Grabhorn, Konstantinos Tsiakas, Uta Herden, et al.
Molecular Genetics and Metabolism|April 29, 2008
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiencyKatharina Engel, Jean-Marc Nuoffer, Chris Mühlhausen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapyJulien H Park, Max Hogrebe, Manfred Fobker, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
Pageof 3

Showing results (1-10 of 26) with videos related to

Sort By:
Pageof 3
Ophthalmic Genetics|October 27, 2020
Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)Simon Dulz, Yevgeniya Atiskova, Peter Engel, et al.
Molecular Genetics and Metabolism Reports|June 5, 2023
Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitorsSimona Murko, Manuela Peschka, Konstantinos Tsiakas, et al.
Genes|November 27, 2021
Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic <i>GLUT2</i> (<i>SLC2A2</i>) VariantsSarah C Grünert, Anke Schumann, Federico Baronio, et al.
Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|November 24, 2017
Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0aTill Holsten, Konstantinos Tsiakas, Uwe Kordes, et al.
Journal of Inherited Metabolic Disease|February 27, 2021
The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional proteinSarah C Grünert, Matthias Eckenweiler, Dorothea Haas, et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society|January 31, 2014
Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literatureEnke Grabhorn, Konstantinos Tsiakas, Uta Herden, et al.
Molecular Genetics and Metabolism|April 29, 2008
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiencyKatharina Engel, Jean-Marc Nuoffer, Chris Mühlhausen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapyJulien H Park, Max Hogrebe, Manfred Fobker, et al.
Mitochondrion|July 12, 2017
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical studyMaja Hempel, Laura S Kremer, Konstantinos Tsiakas, et al.
Molecular Genetics and Metabolism|March 10, 2026
Transaldolase deficiency - natural disease course towards adulthoodViktoria Bea Horvath, Konstantinos Tsiakas, Heiko Brennenstuhl, et al.
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