I. DuChesne

It Is Not Always Alcohol Abuse--A Transferrin Variant Impairing the CDT Test.

Y. Wada, C. Seger, T. Marquardt, 2016, Alcohol and alcoholism.

Mannose supplementation in PMM2-CDG

T. Marquardt, J. Reunert, Julien H. Park, 2021, Orphanet Journal of Rare Diseases.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.

Y. Wada, H. Omran, K. Boycott, 2015, American journal of human genetics.

QIL1-dependent assembly of MICOS complex–lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

Y. Wada, R. Rodenburg, T. Marquardt, 2018, Journal of Human Genetics.

QIL1-dependent assembly of MICOS complex–lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

Y. Wada, R. Rodenburg, T. Marquardt, 2018, Journal of Human Genetics.

Dietary mannose supplementation in phosphomannomutase 2 deficiency (PMM2-CDG)

T. Marquardt, J. Reunert, M. Grüneberg, 2020, Orphanet Journal of Rare Diseases.

Transferrin variants: pitfalls in the diagnostics of Congenital disorders of glycosylation.

Y. Wada, T. Marquardt, S. Rust, 2015, Clinical biochemistry.