D. Rymen

发表

Key features and clinical variability of COG6-CDG.

Gert Matthijs, Uwe Kornak, Hubertus C M T Prinsen, 2015, Molecular genetics and metabolism.

MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.

A. Palmigiano, D. Garozzo, C. Dionisi-Vici, 2017, Journal of mass spectrometry : JMS.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CDG): Diagnosis, follow‐up, and management

H. Freeze, F. Tort, Christina Lam, 2020, Journal of inherited metabolic disease.

Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype

G. Matthijs, R. Sparkes, V. Racé, 2019, Proceedings of the National Academy of Sciences.

MAN 1 B 1 Deficiency : An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2014 .

MAN1B1 Deficiency: An Unexpected CDG-II

G. Matthijs, P. Clayton, V. Racé, 2013, PLoS genetics.

SLC37A4‐CDG: Second patient

G. Matthijs, V. Racé, E. Rodrigues, 2021, JIMD reports.

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.

Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

G. Francis, R. Hegele, M. Reijman, 2022, The Lancet.

Congenital disorders of glycosylation: other causes of ichthyosis

G. Matthijs, J. Jaeken, D. Rymen, 2013, European Journal of Human Genetics.

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

N. Krogan, Y. Wada, O. Kretz, 2017, The Journal of experimental medicine.

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

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

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

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

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.

D. Conrad, C. Stanley, S. Wortmann, 2016, The Journal of pediatrics.

RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

H. Prokisch, Ryan J Schulze, M. McNiven, 2019, American journal of human genetics.

Pyruvate and uridine rescue the metabolic profile of OXPHOS dysfunction

D. Cassiman, P. Vermeersch, P. Witters, 2022, Molecular metabolism.

CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking

H. Freeze, G. Matthijs, J. Jaeken, 2022, Human molecular genetics.

Skin manifestations in CDG

J. Jaeken, D. Rymen, 2014, Journal of Inherited Metabolic Disease.

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG

G. Matthijs, V. Racé, E. Souche, 2012, Glycoconjugate Journal.

Genotype-Phenotype Correlations in PMM2-CDG

D. Cassiman, P. Witters, E. Morava, 2021, Genes.

Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant

M. Ritelli, N. Zoppi, M. Colombi, 2019, Genes.

Glycogen storage disease type VI: clinical course and molecular background

J. Häberle, P. Bode, D. Rymen, 2019, European Journal of Pediatrics.

ALG1‐CDG: Clinical and Molecular Characterization of 39 Unreported Patients

J. Shendure, D. Nickerson, Martin Kircher, 2016, Human mutation.

A case with rare type of congenital disorder of glycosylation: PGM1-CDG.

G. Matthijs, J. Jaeken, Ç. Kasapkara, 2015, Genetic counseling.

COG5-CDG: expanding the clinical spectrum

G. Matthijs, J. Jaeken, L. Sturiale, 2012, Orphanet Journal of Rare Diseases.

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation

R. Wevers, S. Wortmann, E. Boltshauser, 2020, Genetics in Medicine.

Multiple phenotypes in phosphoglucomutase 1 deficiency.

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

Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.

A. Hoischen, J. Veltman, G. Matthijs, 2014, Brain : a journal of neurology.

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

J. Jaeken, G. de Bettignies, Takfarinas Kentache, 2024, Cell.