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Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 7, p. 888, doi. 10.1038/ejhg.2013.154
By:
- Gardeitchik, Thatjana;
- Mohamed, Miski;
- Fischer, Björn;
- Lammens, Martin;
- Lefeber, Dirk;
- Lace, Baiba;
- Parker, Michael;
- Kim, Ki-Joong;
- Lim, Bing C;
- Häberle, Johannes;
- Garavelli, Livia;
- Jagadeesh, Sujatha;
- Kariminejad, Ariana;
- Guerra, Deanna;
- Leão, Michel;
- Keski-Filppula, Riikka;
- Brunner, Han;
- Nijtmans, Leo;
- van den Heuvel, Bert;
- Wevers, Ron
Publication type:
Article
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 43, doi. 10.1002/jimd.12562
By:
- Veys, Koenraad;
- Zadora, Ward;
- Hohenfellner, Katharina;
- Bockenhauer, Detlef;
- Janssen, Mirian C. H.;
- Niaudet, Patrick;
- Servais, Aude;
- Topaloglu, Rezan;
- Besouw, Martine;
- Novo, Robert;
- Haffner, Dieter;
- Kanzelmeyer, Nele;
- Pape, Lars;
- Wühl, Elke;
- Harms, Erik;
- Awan, Atif;
- Sikora, Przemyslaw;
- Ariceta, Gema;
- van den Heuvel, Bert;
- Levtchenko, Elena
Publication type:
Article
Platelet abnormalities in nephrotic syndrome.
Published in:
Pediatric Nephrology, 2016, v. 31, n. 8, p. 1267, doi. 10.1007/s00467-015-3173-8
By:
- Eneman, Benedicte;
- Levtchenko, Elena;
- van den Heuvel, Bert;
- Van Geet, Chris;
- Freson, Kathleen
Publication type:
Article
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.
Published in:
American Journal of Hematology, 2016, v. 91, n. 12, p. E482, doi. 10.1002/ajh.24561
By:
- Donker, Albertine E.;
- Schaap, Charlotte C.M.;
- Novotny, Vera M. J.;
- Smeets, Roel;
- Peters, Tessa M. A.;
- van den Heuvel, Bert L. P.;
- Raphael, Martine F.;
- Rijneveld, Anita W.;
- Appel, Inge M.;
- Vlot, Andre J.;
- Versluijs, A. Birgitta;
- van Gelder, Michel;
- Granzen, Bernd;
- Janssen, Mirian C.H.;
- Rennings, Alexander J.M.;
- van de Veerdonk, Frank L.;
- Brons, Paul P.T.;
- Bakkeren, Dirk L.;
- Nijziel, Marten R.;
- Vlasveld, L. Thom
Publication type:
Article
Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.
Published in:
Human Molecular Genetics, 2004, v. 13, n. 20, p. 2461, doi. 10.1093/hmg/ddh262
By:
- Ugalde, Cristina;
- Vogel, Rutger;
- Huijbens, Richard;
- van den Heuvel, Bert;
- Smeitink, Jan;
- Nijtmans, Leo
Publication type:
Article
<sup>18</sup>F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy.
Published in:
PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182350
By:
- Helsen, Nils;
- Roothans, Dessie;
- Van Den Heuvel, Bert;
- Van den Wyngaert, Tim;
- Van den Weyngaert, Danielle;
- Carp, Laurens;
- Stroobants, Sigrid
Publication type:
Article

Found: 6

Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Platelet abnormalities in nephrotic syndrome.

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory.

Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies.

<sup>18</sup>F-FDG-PET/CT for the detection of disease in patients with head and neck cancer treated with radiotherapy.