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B Wortmann

Showing results (51-60 of 205) with videos related to

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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.
Journal of Inherited Metabolic Disease|September 3, 2014
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsSaskia B Wortmann, Marc Espeel, Ligia Almeida, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft|July 8, 2020
[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?]V Kakkassery, A Koschmieder, F Walther, et al.
Pageof 21

Showing results (51-60 of 205) with videos related to

Sort By:
Pageof 21
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.
Journal of Inherited Metabolic Disease|September 3, 2014
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipidsSaskia B Wortmann, Marc Espeel, Ligia Almeida, et al.
Mitochondrion|November 21, 2012
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents?Saskia Koene, Saskia B Wortmann, Maaike C de Vries, et al.
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft|July 8, 2020
[Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?]V Kakkassery, A Koschmieder, F Walther, et al.
Pageof 21