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JIMD Reports|November 15, 2024
Dihydrolipoamide dehydrogenase deficiency in five siblings with variable phenotypes, including fulminant fatal liver failure despite good engraftment of transplanted liverMihaela Mihaljević, Danijela Petković Ramadža, Tamara Žigman, et al.
Archives of Physiology and Biochemistry|December 7, 2020
Distinct maternal amino acids and oxylipins predict infant fat mass and fat-free mass indicesMonika Riederer, Marlies Wallner, Natascha Schweighofer, et al.
International Journal of Radiation Oncology, Biology, Physics|September 25, 2009
Longitudinal changes in tumor perfusion pattern during the radiation therapy course and its clinical impact in cervical cancerNina A Mayr, Jian Z Wang, Dongqing Zhang, et al.
BMC Medical Genetics|April 23, 2009
Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control studyBarbara Kofler, Edith E Mueller, Waltraud Eder, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem DiseaseSaskia B Wortmann, Brigitte Meunier, Lamia Mestek-Boukhibar, et al.
Hepatology Communications|December 2, 2024
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failureLea D Schlieben, Melanie T Achleitner, Billy Bourke, et al.
Blood|April 16, 2020
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitorSaskia B Wortmann, Johan L K Van Hove, Terry G J Derks, et al.
Cell Metabolism|March 19, 2020
Serine Catabolism Feeds NADH when Respiration Is ImpairedLifeng Yang, Juan Carlos Garcia Canaveras, Zihong Chen, et al.
Cancers|July 2, 2021
Development and External Validation of Deep-Learning-Based Tumor Grading Models in Soft-Tissue Sarcoma Patients Using MR ImagingFernando Navarro, Hendrik Dapper, Rebecca Asadpour, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 2022
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum DiseaseIsabell Cordts, Luisa Semmler, Jannik Prasuhn, et al.
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