K. Huijben

发表

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2012, Human molecular genetics.

Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.

C. Ross, W. Wasserman, A. Pshezhetsky, 2018, JCI insight.

Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation

R. Pfundt, C. Biot, R. Rodenburg, 2018, Human molecular genetics.

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

G. Matthijs, R. Wevers, S. Wopereis, 2007, European Journal of Human Genetics.

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N‐glycan synthesis

H. Stroink, T. Hennet, G. Matthijs, 2000, Annals of neurology.

Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.

R. Wevers, S. Wopereis, E. Morava, 2007, Clinical chemistry.

Gene identiﬁcation in the congenital disorders of glycosylation type I by whole-exome sequencing

A. Hoischen, J. Veltman, R. Rodenburg, 2012 .

Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.

R. Wevers, S. Wopereis, E. Morava, 2005, Glycobiology.

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

H. Freeze, G. Matthijs, A. Ribes, 2021, American Journal of Human Genetics.

Hemolytic uremic syndrome attributable to Streptococcus pneumoniae infection: a novel cause for secondary protein N-glycan abnormalities.

R. Wevers, L. P. Van den Heuvel, L. Monnens, 2002, Clinical chemistry.

Hemolytic Uremic Syndrome Attributable to Strepto- Coccus Pneumoniae Infection: a Novel Cause for Second- Ary Protein N-glycan Abnormalities, Femke De Loos

R. Wevers, L. Heuvel, K. Huijben, 2022 .

A novel C2 transferrin variant interfering with the analysis of carbohydrate-deficient transferrin.

J. Wielders, K. Huijben, M. van Wijnen, 2011, Clinica chimica acta; international journal of clinical chemistry.

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

A. Hoischen, M. Huynen, Y. Wada, 2016, American journal of human genetics.

Synergistic use of glycomics and single‐molecule molecular inversion probes for identification of congenital disorders of glycosylation type‐1

L. P. Van den Heuvel, M. Heiner-Fokkema, C. Thiel, 2022, Journal of inherited metabolic disease.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

Y. Wada, J. Veltman, C. Stanley, 2014, The New England journal of medicine.

Clinical, neuroradiological, and biochemical features of SLC35A2‐CDG patients

B. D. de Vries, H. Freeze, G. Mancini, 2019, Journal of inherited metabolic disease.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

G. Matthijs, R. Wevers, C. Thiel, 2016, Journal of Inherited Metabolic Disease.

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia

G. Matthijs, R. Wevers, S. Wopereis, 2007, European Journal of Human Genetics.

ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Christian Gilissen, Alexander Hoischen, Ron A Wevers, 2016, Nature Communications.

Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria.

R. Dwek, R. Wevers, P. Rudd, 2006, Biochimica et biophysica acta.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Dian Donnai, Sheila Unger, Andrea Superti-Furga, 2016, Nature Genetics.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

Brian J. Stevenson, G. Superti-Furga, C. Ross, 2017, Nature genetics.

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

J. Schuurs-Hoeijmakers, H. Mandel, J. van Reeuwijk, 2011, PLoS genetics.

Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5

G. van den Bogaart, S. Pajusalu, K. Õunap, 2020, Nature Communications.

The SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) protein syntaxin-5 (Stx5)

G. van den Bogaart, S. Pajusalu, K. Õunap, 2020 .

TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation.

A. Hoischen, M. Huynen, J. Veltman, 2016, American journal of human genetics.

Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.

R. Wevers, S. Wopereis, P. Demacker, 2003, Clinical chemistry.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

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

D. Lefeber, C. Papadopoulos, P. V. D. Van den Bergh, 2019, Journal of inherited metabolic disease.

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

M. Verbeek, D. Lefeber, J. Jacobs, 2023, International journal of molecular sciences.

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

Screening for CDG type Ia in Joubert syndrome.

R. Wevers, E. Morava, L. Szőnyi, 2004, Medical science monitor : international medical journal of experimental and clinical research.

Screening for abnormal glycosylation in a cohort of adult liver disease patients

J. Drenth, B. van Hoek, D. Lefeber, 2020, Journal of inherited metabolic disease.