Karin Huijben

发表

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.

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

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

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.

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.

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

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

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.

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

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

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.

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

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

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

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

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.

Anion-exchange chromatography versus isoelectric focusing of transferrin in diagnosing the carbohydrate-deficient glycoprotein syndrome

P. Vreken, R. Wevers, H. Rusch, 1998, 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.

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.

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.

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.

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.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

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

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.

Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes

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

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

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

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

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

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.

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.

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.

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.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

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

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.

In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis

R. Rodenburg, N. Voermans, D. Lefeber, 2023, International journal of molecular sciences.

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

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

Thyroid function in PMM2-CDG: diagnostic approach and proposed management.

R. Wevers, A. V. van Herwaarden, E. Morava, 2012, Molecular genetics and metabolism.

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.