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Saskia B Wortmann

Showing results (31-40 of 178) with videos related to

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Neuropediatrics|October 6, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDGNastassja Himmelreich, Sven F Garbade, Jürgen G Okun, 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.
Biochimica Et Biophysica Acta. General Subjects|January 10, 2020
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human diseaseDagmara Mróz, Hubert Wyszkowski, Tomasz Szablewski, et al.
Journal of Inherited Metabolic Disease|January 4, 2026
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1Fabian Preisner, Sven F Garbade, Inga Harting, et al.
JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2026
Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: a review of phenotypes and therapeutic strategies in 899 patientsEva M M Hoytema van Konijnenburg, Jingjing Ying, Gajja S Salomons, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 18

Showing results (31-40 of 178) with videos related to

Sort By:
Pageof 18
Neuropediatrics|October 6, 2025
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDGNastassja Himmelreich, Sven F Garbade, Jürgen G Okun, 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.
Biochimica Et Biophysica Acta. General Subjects|January 10, 2020
CLPB (caseinolytic peptidase B homolog), the first mitochondrial protein refoldase associated with human diseaseDagmara Mróz, Hubert Wyszkowski, Tomasz Szablewski, et al.
Journal of Inherited Metabolic Disease|January 4, 2026
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1Fabian Preisner, Sven F Garbade, Inga Harting, et al.
JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Ebiomedicine|October 23, 2020
Corrigendum to "Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases" [EBioMedicine 54 (2020) 102730]Jing Tan, Matias Wagner, Sarah L Stenton, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2026
Mitochondrial aminoacyl-tRNA synthetase (ARS)-defects: a review of phenotypes and therapeutic strategies in 899 patientsEva M M Hoytema van Konijnenburg, Jingjing Ying, Gajja S Salomons, et al.
Ebiomedicine|April 20, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databasesJing Tan, Matias Wagner, Sarah L Stenton, et al.
Pageof 18