Bianca Dimitrov

发表

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

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

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

R. Eils, M. Carl, S. Wiemann, 2018, Molecular genetics and metabolism.

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‐terminus

A. Ziegler, J. Denecke, I. Sinning, 2019, Human mutation.

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

Robert W. Taylor, I. Harting, T. Meitinger, 2018, Genetics in Medicine.

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

G. A. Bezerra, W. Yue, J. Rutter, 2020, bioRxiv.

Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects

C. Thiel, Matthias Zielonka, V. Peters, 2020, Molecular genetics and metabolism reports.

Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise

M. Baumgartner, S. Kölker, J. Schmiesing, 2020, Journal of inherited metabolic disease.

Dehydrogenase E1 and transketolase domain-containing protein 1 – DHTKD1 A Target Enabling Package (TEP)

G. A. Bezerra, W. Yue, T. J. McCorvie, 2021 .

Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data

S. Kölker, Matthias Zielonka, N. Boy, 2023, Journal of inherited metabolic disease.

Exploring genotype–phenotype correlations in glutaric aciduria type 1

C. V. van Karnebeek, A. Ribes, S. Kölker, 2023, Journal of inherited metabolic disease.

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Matthias Zielonka, Bianca Dimitrov, Svenja Scharre, 2023, Molecular genetics and metabolism.