D-Index & Metrics Best Publications

Jaak Jaeken

KU Leuven
Belgium

Biology and Biochemistry

Belgium

2023

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Biology and Biochemistry D-index 66 Citations 12,731 302 World Ranking 5675 National Ranking 98

Research.com Recognitions

Awards & Achievements

2023 - Research.com Biology and Biochemistry in Belgium Leader Award

Best Publications

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

Emile Van Schaftingen;Jaak Jaeken.
FEBS Letters (1995)

372 Citations

Congenital Disorders of Glycosylation

Jaeken J.
Annals of the New York Academy of Sciences (2010)

327 Citations

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.
Pediatric Research (1980)

326 Citations

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.
Clinica Chimica Acta (1984)

317 Citations

Congenital Disorders of Glycosylation: A Rapidly Expanding Disease Family

Jaak Jaeken;Gert Matthijs.
Annual Review of Genomics and Human Genetics (2007)

303 Citations

Inherited disorders of GABA metabolism.

C. Jakobs;J. Jaeken;K. M. Gibson.
Journal of Inherited Metabolic Disease (1993)

296 Citations

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer;Stephan Rust;Monique van Scherpenzeel;Bobby G. Ng.
The New England Journal of Medicine (2014)

236 Citations

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

P de Lonlay;N Seta;S Barrot;B Chabrol.
Journal of Medical Genetics (2001)

234 Citations

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

J Jaeken;H Schachter;H Carchon;P De Cock.
Archives of Disease in Childhood (1994)

228 Citations

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.
Glycobiology (2003)

216 Citations

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