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Jaak Jaeken

Jaak Jaeken

D-Index & Metrics

Biology and Biochemistry

D-Index
80
Citations
20484
World Ranking
4141
National Ranking
69

Overview

Jaak Jaeken is affiliated with KU Leuven in Belgium and has contributed extensively to the fields of biochemistry, genetics, and molecular biology. Their research spans a range of subfields including molecular biology, genetics, physiology, organic chemistry, and surgery, with a strong focus on biochemical and molecular research related to glycosylation and rare diseases.

Their work includes significant contributions to the understanding of congenital disorders of glycosylation (CDG) and related metabolic diseases. They have published numerous papers in notable scientific journals, with topics covering genetic and biochemical mechanisms, diagnostic guidelines, and clinical management strategies.

Recent papers authored or coauthored by Jaak Jaeken include:

  • Congenital disorders of glycosylation: Still "hot" in 2020, 2020, Biochimica et Biophysica Acta (BBA) - General Subjects
  • International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management, 2020, Journal of Inherited Metabolic Disease
  • Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder, 2020, Brain
  • Congenital disorders of glycosylation (CDG): state of the art in 2022, 2023, Orphanet Journal of Rare Diseases
  • SLC35A2-CDG: Novel variant and review, 2021, Molecular Genetics and Metabolism Reports

Their frequent co-authors include:

  • Gert Matthijs
  • Vanessa dos Reis Ferreira
  • Rita Francisco
  • Carlota Pascoal
  • Paula A. Videira

Jaek Jaeken's publications appear predominantly in journals specializing in rare diseases, genetics, and metabolic disorders. The most common publication venues for their work are:

  • Orphanet Journal of Rare Diseases
  • Journal of Inherited Metabolic Disease
  • International Journal of Environmental Research and Public Health
  • Patient Education and Counseling
  • Molecular Genetics and Metabolism

The main topics of Jaeken's research reflect a broad expertise in glycobiology and rare diseases and include:

  • Glycosylation and Glycoproteins Research
  • Lysosomal Storage Disorders Research
  • Genomics and Rare Diseases
  • Carbohydrate Chemistry and Synthesis
  • Biochemical and Molecular Research
  • Pancreatic function and diabetes
  • Galectins and Cancer Biology

Best Publications

  • Congenital disorders of glycosylation.

    Jaeken J

  • Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

    Emile Van Schaftingen;Jaak Jaeken

  • Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

    Gert Matthijs;E Schollen;Els Pardon;M Veiga-Da-Cunha

  • Familial psychomotor retardation with markedly fluctuating serum prolactin, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome?: 90

    J Jaeken;M Vanderschueren-Lodeweyckx;P Casaer;L Snoeck

  • Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

    J. Jaeken;H.G. van Eijk;C. van der Heul;L. Corbeel

  • Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

    Jaak Jaeken;Gert Matthijs

  • Inherited disorders of GABA metabolism

    C. Jakobs;J. Jaeken;K. M. Gibson

  • Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

    Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng

  • Congenital disorders of glycosylation (CDG): Quo vadis?

    Romain Péanne;Pascale de Lonlay;François Foulquier;Uwe Kornak

  • Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

    J Jaeken;H Schachter;H Carchon;P De Cock

  • An international classification of inherited metabolic disorders (ICIMD).

    Carlos R Ferreira;Shamima Rahman;Shamima Rahman;Markus Keller;Johannes Zschocke

  • Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis

    Michael Butler;D. Quelhas;Alison J. Critchley;Hubert Carchon

  • Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

    Timo Imbach;Barbara Schenk;Els Schollen;Patricie Burda

  • Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.

    Tan J;Dunn J;Jaeken J;Schachter H

  • Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

    François Foulquier;Eliza Vasile;Els Schollen;Nico Callewaert

  • Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

    Gert Matthijs;Els Schollen;Emile Van Schaftingen;Jean-Jacques Cassiman

  • TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

    François Foulquier;Mustapha Amyere;Jaak Jaeken;Renate Zeevaert

  • Congenital disorders of glycosylation (CDG): It's all in it!

    J. Jaeken

  • The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement.

    J Jaeken;H Stibler;B Hagberg

  • MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

    Barbara Schenk;Timo Imbach;Christian G. Frank;Claudia E. Grubenmann

Frequent Co-Authors

Gert Matthijs
Gert Matthijs KU Leuven
Eva Morava
Eva Morava Mayo Clinic
Dirk Lefeber
Dirk Lefeber Radboud University
Emile Van Schaftingen
Emile Van Schaftingen Université Catholique de Louvain
Ron A. Wevers
Ron A. Wevers Radboud University
Paul Casaer
Paul Casaer KU Leuven
Hudson H. Freeze
Hudson H. Freeze Discovery Institute
Harry Schachter
Harry Schachter University of Toronto
Marinus Duran
Marinus Duran University of Amsterdam

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