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Jacques Jaeken
Observed name:
J Jaeken
Institution:
Universitair Ziekenhuis Leuven
Observed institutions:
Universitair Ziekenhuis Leuven,
Erasmus MC - Sophia Children’s Hospital,
KU Leuven
OpenAlex ID:
A5113758936
Mutations in PEX10 are a cause of autosomal recessive ataxia
2010
·
Luc Régal
, Merel S. Ebberink
, et al.
·
Annals of Neurology
·
79
Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism
2019
·
Hilde Van Esch
, Rita Colnaghi
, et al.
·
The American Journal of Human Genetics
·
46
PDF
Defects of N-glycan synthesis
2001
·
Jacques Jaeken
, Gert Matthijs
, et al.
·
Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B))
·
43
Bacterial metabolism shown by magnetic resonance spectroscopy
1994
·
Philippe Demaerel
, Paul Van Hecke
, et al.
·
The Lancet
·
33
Haemorrhagic disease of the newborn in the offspring of rifampicin and isoniazid treated mothers.
1976
·
E Eggermont
, N Logghe
, et al.
·
PubMed
·
28
Bacillus cereus meningo-encephalitis in a pre-term baby.
1981
·
B Hendrickx
, M Azou
, et al.
·
PubMed
·
18
Possible role of platelet activation in the pathogenesis of the transient neonatal hyperammonemia syndrome
1991
·
Chris Van Geet
, Luc Vandenbossche
, et al.
·
Thrombosis and Haemostasis
·
10
Leukodystrophy with increased csf and plasma gamma-aminobutyric acid and beta-alanine - gamma-aminobutyric acid transaminase deficiency
1984
·
Jacques Jaeken
, L Corbeel
, et al.
·
Pediatric Research
·
7
Recurrent attacks of ketotic acidosis associated with fructose-1,6-diphosphatase deficiency.
1976
·
L Corbeel
, E Eggermont
, et al.
·
PubMed
·
5
[Tracheobronchial stenosis of the premature infant. Treatment by balloon dilatation].
1988
·
H Devlieger
, G Wilms
, et al.
·
PubMed
·
4
Congenital folate malabsorption with mental-retardation and cerebral calcifications
1982
·
L Corbeel
, Jacques Jaeken
, et al.
·
Pediatric Research
·
4
Eosinophilic infiltration of the oesophagus in an infant.
1978
·
P Forget
, E Eggermont
, et al.
·
PubMed
·
4
Angiographic evidence of low portal liver perfusion in transient neonatal hypermmonaemia.
1980
·
E Eggermont
, H Devlieger
, et al.
·
PubMed
·
2
A novel mutation in cog7 expands the spectrum of cog deficiencies
2009
·
Renate Zeevaert
, David Cheillan
, et al.
·
Molecular Genetics and Metabolism
·
1
Congenital disorders of glycosylation: deficiencies in the ER pathway
2001
·
Barbara Schenk
, Timo Imbach
, et al.
·
Glycobiology
·
1
Partial deficiency of phosphomannomutase: a pitfall in the diagnosis of congenital disorders of glycosylation (CDG-Ia)
2000
·
Gert Matthijs
, Stephanie Grünewald
, et al.
·
The American Journal of Human Genetics
·
1
Carbohydrate-deficient glycoprotein syndrome: Report of 23 patients
1999
·
Pascale de Lonlay
, Nathalie Seta
, et al.
·
The American Journal of Human Genetics
·
1
Chronic organo-axial twisting of the stomach in infants born prematurely and affected by chronic respiratory disease.
1980
·
E Eggermont
, H Devlieger
, et al.
·
PubMed
·
1
Transient hyperammonaemia in a preterm neonate.
1979
·
J Jaeken
, H Devlieger
, et al.
·
PubMed
·
1
Aquaglyceroporin 7 is involved in platelet dense granule secretion: a study in patients with hyperglyceroluria homozygous for G264V
2011
·
Christophe Goubau
, Jacques Jaeken
, et al.
·
Journal of Thrombosis and Haemostasis
A possible role for the conserved oligomeric Golgi complex subunit I (COGI) in autosomal recessive cerebrocostomandibular syndrome
2008
·
Renate Zeevaert
, François Foulquier
, et al.
·
Journal of Inherited Metabolic Disease
Successful 'transplantation' of MRI quantitative chemical shift imaging (QCSI) technology for the detection of bone marrow fat signal fraction in type I gaucher disease, from amsterdam to Leuven
2008
·
David Cassiman
, Ronald Peeters
, et al.
·
Journal of Inherited Metabolic Disease
A rapid platelet-based bioassay for screening of defective Gs signaling: illustration in the clinical broad spectrum of pseudo(pseudo)hypoparathyroidism
2007
·
Veerle Labarque
, Chantal Thys
, et al.
Hyperreactive platelets in patients with Gs deficiency
2007
·
Kathleen Freson
, Veerle Labarque
, et al.
·
Journal of Thrombosis and Haemostasis
Trafic intracellulaire anormal et mutations dans le complexe COG (conserved oligomeric Golgi) définissent un nouveau groupe de maladies congénitales de glycosylation (CDG)
2006
·
Gert Matthijs
, François Foulquier
, et al.
·
médecine/sciences
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Works count:
40
Citation count:
289
H-index:
7
I10-index:
7
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