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Journal of Inherited Metabolic Disease|April 20, 2023
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world dataYuheng Yuan, Bianca Dimitrov, Nikolas Boy, et al.Journal of Inherited Metabolic Disease|May 16, 2020
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promiseBianca Dimitrov, Femke Molema, Monique Williams, et al.Molecular Genetics and Metabolism|December 19, 2023
ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvaeMarie J Seidl, Svenja Scharre, Roland Posset, et al.Molecular Genetics and Metabolism|July 15, 2022
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literatureNastassja Himmelreich, Bianca Dimitrov, Matthias Zielonka, et al.Journal of Inherited Metabolic Disease|April 6, 2023
Exploring genotype-phenotype correlations in glutaric aciduria type 1Imke M E Schuurmans, Bianca Dimitrov, Julian Schröter, et al.Molecular Genetics and Metabolism Reports|November 19, 2020
Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effectsMarlen Görlacher, Eleftheria Panagiotou, Nastassja Himmelreich, et al.Iucrj|July 23, 2020
Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolismGustavo A Bezerra, William R Foster, Henry J Bailey, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.Human Mutation|May 9, 2019
Novel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminusNastassja Himmelreich, Bianca Dimitrov, Virginia Geiger, et al.Molecular Genetics and Metabolism|February 4, 2018
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDGBianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, et al.Pageof 1