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List of works by Dirk J Lefeber

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

scientific article published on 19 December 2012

A mutation in mannose-phosphate-dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

scientific article published on 30 September 2019

A novel PMCA3 mutation in an ataxic patient with hypomorphic phosphomannomutase 2 (PMM2) heterozygote mutations: Biochemical characterization of the pump defect

scientific article

Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.

scientific article

Cognitive performance and brain dynamics during walking with a novel bionic foot: A pilot study

scientific article published on 03 April 2019

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

scientific article published on 17 May 2016

Dynamic Performance of a Squeeze Film Damper with a Cylindrical Roller Bearing under a Large Static Radial Loading Range

Dynamic Performance of an Oil Starved Squeeze Film Damper Combined With a Cylindrical Roller Bearing

scientific article published on 06 February 2019

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

scientific article published on 10 May 2018

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

scientific article

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.

scientific article

Oral D-galactose supplementation in PGM1-CDG.

scientific article published on 15 June 2017

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

scientific article

Self-healing soft pneumatic robots

scientific article published on 01 August 2017

Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG

scientific article published on 23 April 2019

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