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List of works by Thorsten Marquardt

A mutation in the neonatal isoform of <i>SCN2A</i> causes neonatal‐onset epilepsy

scientific article published in 2021

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

scientific journal article

Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2

scientific article published on 27 December 2020

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

scientific article published on 22 September 2020

Limitations of galactose therapy in phosphoglucomutase 1 deficiency

scientific article published on 31 July 2017

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature

scientific article published on 25 February 2014

N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency

scientific article published on 27 August 2020

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany

scientific article

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients

scientific article published on 10 January 2013

Quantification of muscle pathology in infantile Pompe disease.

scientific article

TMEM16A deficiency: a potentially fatal neonatal disease resulting from impaired chloride currents

scientific article published on 02 June 2020

TRAPγ-CDG shows asymmetric glycosylation and an effect on processing of proteins required in higher organisms

scientific article published on 24 April 2020

The schizophrenia risk locus in SLC39A8 alters brain metal transport and plasma glycosylation

scientific article published on 04 August 2020

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