Zobrazeno 1 - 10
of 86
pro vyhledávání: '"Jacques Jaeken"'
Autor:
Jacques Jaeken, Ruth Newbury-Ecob, Liesbeth Backx, Claire Faulkner, Andreas Zankl, Karen J. Low, Petro Starokadomskyy, Gary M. Leong, Hilde Van Esch, Katrin Õunap, Mark O'Driscoll, Koen Devriendt, Ezra Burstein, Kathleen Freson, Eve Seuntjens, Luis Rohena, Iga Abramowicz, Emily Outwin, Rita Colnaghi, Rachel C. Challis
Publikováno v:
Web of Science
Replicating the human genome efficiently and accurately is a daunting challenge involving the duplication of upward of three billion base pairs. At the core of the complex machinery that achieves this task are three members of the B family of DNA pol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae8ab54150ba1179973f7dd7256291c7
https://lirias.kuleuven.be/handle/123456789/636765
https://lirias.kuleuven.be/handle/123456789/636765
Autor:
Thierry Hennet, Wendy Vleugels, Luc Régal, Gert Matthijs, Jacques Jaeken, Nathalie Goemans, Carlo Dionisi-Vici, Micha A. Haeuptle, C Corchia, François Foulquier
Publikováno v:
Journal of Inherited Metabolic Disease. 32:335-338
Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in prot
Autor:
David Cassiman, Jacques Jaeken
Publikováno v:
Gut. 57:141-144
The liver is a stupid organ. It has only limited abilities to express itself. It can necrotise, swell, inflame, clot and scarify. The liver can become leaky, it can sometimes hurt and its plumbing can clog. And then the liver can be fatty. For some t
Autor:
Rafael Artuch, I Sau, M. A. Vilaseca, Mercè Pineda, E Van Schaftingen, Jacques Jaeken, Salud Santos, M M García González, Asun Aracil
Publikováno v:
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, at
Autor:
Wim Annaert, Philippa B. Mills, Monty Krieger, Eliza Vasile, Bryan Winchester, François Foulquier, Tim Raemaekers, Gert Matthijs, Dulce Quelhas, Jacques Jaeken, Nico Callewaert, Els Schollen
Publikováno v:
Proceedings of the National Academy of Sciences. 103:3764-3769
The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of gly
Autor:
Gert Matthijs, Jean-François Collet, Liesbeth Keldermans, An Snellinx, Raphael Sciot, Dieter Hartmann, Jacques Jaeken, S Grünewald, E Vanschaftingen, Kathy Cromphout, N De Geest
Publikováno v:
European Journal of Neuroscience. 22:991-996
The most common type of the congenital disorders of glycosylation, CDG-Ia, is caused by mutations in the human PMM2 gene, reducing phosphomannomutase (PMM) activity. The PMM2 mutations mainly lead to neurological symptoms, while other tissues are onl
Autor:
Kris De Boeck, Gert Matthijs, Marc Boogaerts, Kristin Minner, Marijke Proesmans, Eric Verbeken, Jacques Jaeken, Johan L.K. Van Hove, Anouk Demunter
Publikováno v:
American Journal of Medical Genetics Part A. :152-158
Two siblings from a consanguineous family presented with a poikiloderma of limbs and face, plantar keratoderma, and toenail pachyonychia. Neutropenia and neutrophil dysfunction with impairment of the respiratory burst and bacterial killing resulted i
Autor:
Jacques Jaeken, Hubert Carchon
Publikováno v:
Current Opinion in Pediatrics. 16:434-439
Purpose of review The detection and identification of new congenital disorders of glycosylation continues at a rapid pace. Sine June 2003, four new congenital disorders of glycosylation have been reported, making a total of 20 diseases (on average ne
Publikováno v:
Clinical Chemistry. 50:101-111
Background: Congenital disorders of glycosylation (CDG) are usually diagnosed by isoelectric focusing (IEF) of serum transferrin (Tf). The aim of this study was to evaluate capillary zone electrophoresis (CZE) as a diagnostic alternative to IEF. Meth
Autor:
Radhakant Sharma, K. Hyland, Georg F. Hoffmann, Agata Fiumara, Chad A. Brautigam, B Stoltenborg, Jacques Jaeken, Ron A. Wevers, Lieven Lagae
Publikováno v:
Neuropediatrics, 33, 4, pp. 203-8
Neuropediatrics, 33, 203-8
Neuropediatrics, 33, 203-8
Item does not contain fulltext Aromatic L-amino acid decarboxylase (AADC - E.C. 4.1.1.28) converts L-dopa to dopamine and 5-hydroxytryptophan to serotonin. Inherited deficiency of this enzyme leads to decreased brain levels of these neurotransmitters