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Bianca Dimitrov

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Publications

4

Citations

141

H-Index

4

Active since

2018

Affiliations

University Hospital Heidelberg(Current)

Heidelberg University

Bianca Dimitrov is an author at University Hospital Heidelberg specializing in health sciences, pathology, and metabolomics.

Top concepts

HealthDiabetesMedicinePathologyMetabolismPhysiologyMetabolomicsGastroenterologyMetabolic Syndrome

Publications per year

2018–2023

4

Publications

4

SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

Dominic Lenz, Patricia McClean, Aydan Kansu et al. · Genetics in Medicine · 2018 · 63 citations · Full text

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen et al. · Molecular Genetics and Metabolism · 2018 · 33 citations · Full text

Metabolic Syndrome, Cutis Laxa, New Patient +12

Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism

G.A. Bezerra, William R. Foster, H. Bailey et al. · IUCrJ · 2020 · 25 citations · Full text

Exploring genotype–phenotype correlations in glutaric aciduria type 1

Imke M. E. Schuurmans, Bianca Dimitrov, Julian Schröter et al. · Journal of Inherited Metabolic Disease · 2023 · 20 citations · Full text

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