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Daniela Karall

Showing results (41-50 of 129) with videos related to

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Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, 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.
Orphanet Journal of Rare Diseases|June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and SwitzerlandSusanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
Pediatrics|March 12, 2008
Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medicationSabine Scholl-Bürgi, Edda Haberlandt, Peter Heinz-Erian, et al.
Cardiovascular & Hematological Disorders Drug Targets|February 13, 2019
Impact of the Fontan Operation on Organ SystemsMiriam Michel, Manuela Zlamy, Andreas Entenmann, et al.
Frontiers in Genetics|July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic toolKatarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
Cells|June 2, 2021
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation DisordersKhaled I Alatibi, Judith Hagenbuchner, Zeinab Wehbe, et al.
Acta Paediatrica (Oslo, Norway : 1992)|October 6, 2021
The COVID-19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent casesNikolas Beck, Miriam Michel, Uwe Klingkowski, et al.
Pediatric Research|February 1, 2017
Former very preterm infants show alterations in plasma amino acid profiles at a preschool ageAnna Posod, Susanne Müller, Irena Odri Komazec, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 7, 2019
The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disordersManuela Zlamy, Justina Hofstätter, Ursula Albrecht, et al.
Pageof 13

Showing results (41-50 of 129) with videos related to

Sort By:
Pageof 13
Genes|July 29, 2025
Homozygous DHCR7 p.Val330Met Variant Associated with Mild Non-Syndromic Intellectual Disability and Elevated Serum 7-Dehydrocholesterol Levels in Two SiblingsLukas Hackl, Edda Haberlandt, Thomas Müller, 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.
Orphanet Journal of Rare Diseases|June 17, 2017
Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and SwitzerlandSusanne Nettesheim, Stefan Kölker, Daniela Karall, et al.
Pediatrics|March 12, 2008
Amino acid cerebrospinal fluid/plasma ratios in children: influence of age, gender, and antiepileptic medicationSabine Scholl-Bürgi, Edda Haberlandt, Peter Heinz-Erian, et al.
Cardiovascular & Hematological Disorders Drug Targets|February 13, 2019
Impact of the Fontan Operation on Organ SystemsMiriam Michel, Manuela Zlamy, Andreas Entenmann, et al.
Frontiers in Genetics|July 28, 2025
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic toolKatarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, et al.
Cells|June 2, 2021
Different Lipid Signature in Fibroblasts of Long-Chain Fatty Acid Oxidation DisordersKhaled I Alatibi, Judith Hagenbuchner, Zeinab Wehbe, et al.
Acta Paediatrica (Oslo, Norway : 1992)|October 6, 2021
The COVID-19 pandemic reduced paediatric emergency department visits but did not significantly increase urgent casesNikolas Beck, Miriam Michel, Uwe Klingkowski, et al.
Pediatric Research|February 1, 2017
Former very preterm infants show alterations in plasma amino acid profiles at a preschool ageAnna Posod, Susanne Müller, Irena Odri Komazec, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|February 7, 2019
The value of axillary skin electron microscopic analysis in the diagnosis of lysosomal storage disordersManuela Zlamy, Justina Hofstätter, Ursula Albrecht, et al.
Pageof 13