Jaak Jaeken

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

J. Jaeken, M. Hagemans, P. Merkus, 2010, Neuromuscular Disorders.

Restrictive dermopathy with distinct morphological abnormalities.

C. de Wolf‐Peeters, J. Fryns, E. Legius, 1990, American journal of medical genetics.

Congenital disorders of glycosylation (CDG) may be underdiagnosed when mimicking mitochondrial disease.

M. Pineda, J. Jaeken, P. Briones, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Andersen-Tawil syndrome

E. Viding, G. Kojda, M. Digilio, 2020, Definitions.

Defective glycosyltransferases are not good for your health.

J. Jaeken, H. Schachter, J. Tan, 1998, Advances in experimental medicine and biology.

Adenylosuccinate lyase deficiency: an update.

M. Vincent, J. Jaeken, F. A. van den Bergh, 1994, Advances in experimental medicine and biology.

Androgen insensitivity syndrome.

T. Bourgeron, E. Viding, G. Kojda, 2019, Bailliere's clinical endocrinology and metabolism.

The challenge of CDG diagnosis.

E. Morava, J. Jaeken, D. Marques-da-Silva, 2019, Molecular genetics and metabolism.

Congenital Disorders of Glycosylation

Jaak Jaeken, Lambert van den Heuvel, 2022, Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases.

Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype.

H. Souayah, L. Sturiale, S. Rooze, 2012, JIMD reports.