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Daniela Karall

Showing results (111-120 of 129) with videos related to

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Journal of Inherited Metabolic Disease|October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumUlrike Mütze, Florian Gleich, Ivo Barić, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
The EMBO Journal|October 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescenceJennifer Kahlhofer, Nikolas Marchet, Kristian Zubak, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.
Journal of Clinical Immunology|April 30, 2016
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Pageof 13

Showing results (111-120 of 129) with videos related to

Sort By:
Pageof 13
Journal of Inherited Metabolic Disease|October 20, 2022
Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortiumUlrike Mütze, Florian Gleich, Ivo Barić, et al.
American Journal of Human Genetics|February 7, 2015
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiencyGloria Brea-Calvo, Tobias B Haack, Daniela Karall, et al.
The EMBO Journal|October 20, 2025
TXNIP mediates LAT1/SLC7A5 endocytosis to limit amino acid uptake in cells entering quiescenceJennifer Kahlhofer, Nikolas Marchet, Kristian Zubak, et al.
Nutrients|September 9, 2022
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, et al.
Journal of Clinical Immunology|March 9, 2016
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
American Journal of Human Genetics|March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex DeficienciesThatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Orphanet Journal of Rare Diseases|January 12, 2013
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patientsSarah C Grünert, Stephanie Müllerleile, Linda De Silva, et al.
Journal of Clinical Immunology|April 30, 2016
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive SurveyTracy A Briggs, Gillian I Rice, Navid Adib, et al.
Journal of Inherited Metabolic Disease|October 11, 2022
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revisionNikolas Boy, Chris Mühlhausen, Esther M Maier, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Pageof 13