Jaak Jaeken
Researcher Next ID · RN-039536
Researcher · Biochemistry, Genetics and Molecular Biology
Leuven, Belgium
- Works count
- 820
- Citation count
- 13,880
- H-index
- 63
- i10-index
- 232
Research interests
Publications
Congenital disorders of glycosylation (CDG): Quo vadis?
European Journal of Medical Genetics · 2017 · https://doi.org/10.1016/j.ejmg.2017.10.012
Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
New England Journal of Medicine · 2014 · https://doi.org/10.1056/nejmoa1206605
TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation
The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2012.05.002
Congenital disorders of glycosylation
Annals of the New York Academy of Sciences · 2010 · https://doi.org/10.1111/j.1749-6632.2010.05840.x
Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family
Annual Review of Genomics and Human Genetics · 2007 · https://doi.org/10.1146/annurev.genom.8.080706.092327
Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II
Proceedings of the National Academy of Sciences · 2006 · https://doi.org/10.1073/pnas.0507685103
Congenital Disorders of Glycosylation: A Review
Pediatric Research · 2002 · https://doi.org/10.1203/00006450-200211000-00003
Congenital Disorders of Glycosylation
Annual Review of Genomics and Human Genetics · 2001 · https://doi.org/10.1146/annurev.genom.2.1.129
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases
Journal of Medical Genetics · 2001 · https://doi.org/10.1136/jmg.38.1.14
Phosphomannose Isomerase Deficiency: A Carbohydrate-Deficient Glycoprotein Syndrome with Hepatic-Intestinal Presentation
The American Journal of Human Genetics · 1998 · https://doi.org/10.1086/301873
Carbohydrate deficient glycoprotein (CDG) syndrome type I.
Journal of Medical Genetics · 1997 · https://doi.org/10.1136/jmg.34.1.73
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13 in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
Nature Genetics · 1997 · https://doi.org/10.1038/ng0597-88
Phosphomannomutase deficiency is a cause of carbohydrate‐deficient glycoprotein syndrome type I
FEBS Letters · 1995 · https://doi.org/10.1016/0014-5793(95)01357-1
Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.
Archives of Disease in Childhood · 1994 · https://doi.org/10.1136/adc.71.2.123
Current projects
No projects listed.