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Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?
Published in:
European Journal of Human Genetics, 2001, v. 9, n. 2, p. 91, doi. 10.1038/sj.ejhg.5200598
By:
- Bakker, Henk D;
- de Sonnaville, Marie-Louise CS;
- Vreken, Peter;
- Abeling, Nico GGM;
- Groener, Johanna EM;
- Keulemans, Joke LM;
- van Diggelen, Otto P
Publication type:
Article
Known heat-shock proteins are not responsible for stress-induced rapid degradation of ribosomal protein mRNAs in yeast.
Published in:
Yeast, 1993, v. 9, n. 6, p. 583, doi. 10.1002/yea.320090604
By:
- Galego, Lisete;
- Barahona, Isabel;
- Alves, Ana-Paula;
- Rodrigues-Pousada, Claudina;
- Vreken, Peter;
- Raué, Hendrik A.;
- Planta, Rudi J.
Publication type:
Article
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
Published in:
2000
By:
- Skladal, Daniela;
- Sass, Jörn Oliver;
- Geiger, Harald;
- Geiger, Ralf;
- Mann, Christian;
- Vreken, Peter;
- Wanders, Ronald J. A.;
- Trawöger, Rudolf;
- Skladal, D;
- Sass, J O;
- Geiger, H;
- Geiger, R;
- Mann, C;
- Vreken, P;
- Wanders, R J;
- Trawöger, R
Publication type:
journal article
β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine.
Published in:
Magnetic Resonance in Medicine, 2001, v. 46, n. 5, p. 1014, doi. 10.1002/mrm.1289
By:
- Moolenaar, Sytske H.;
- Göhlich-Ratmann, Gudrun;
- Engelke, Udo F.H.;
- Spraul, Manfred;
- Humpfer, Eberhard;
- Dvortsak, Peter;
- Voit, Thomas;
- Hoffmann, Georg F.;
- Bräutigam, Christa;
- van Kuilenburg, André B.;
- van Gennip, Albert;
- Vreken, Peter;
- Wevers, Ron A.
Publication type:
Article
Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.
Published in:
British Journal of Clinical Pharmacology, 1998, v. 46, n. 2, p. 151, doi. 10.1046/j.1365-2125.1998.00751.x
By:
- Ridge, Susan A.;
- Sludden, Julieann;
- Brown, Oliver;
- Robertson, Leigh;
- Wei, Xiaoxiong;
- Sapone, Andrea;
- Fernandez-Salguero, Pedro M.;
- Gonzalez, Frank J.;
- Vreken, Peter;
- van Kuilenburg, Andre BP;
- van Gennip, Albert H.;
- McLeod, Howard L.
Publication type:
Article
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Published in:
Nature Genetics, 2000, v. 24, n. 2, p. 188, doi. 10.1038/72861
By:
- Ferdinandusse, Sacha;
- Denis, Simone;
- Clayton, Peter T.;
- Graham, Andrew;
- Rees, John E.;
- Allen, John T.;
- McLean, Brendan N.;
- Brown, Ann Y.;
- Vreken, Peter;
- Waterham, Hans R.;
- Wanders, Ronald J.A.
Publication type:
Article
Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.
Published in:
Human Molecular Genetics, 2005, v. 14, n. 23, p. 3565, doi. 10.1093/hmg/ddi384
By:
- Ferrer, Isidre;
- Kapfhammer, Josef P.;
- Hindelang, Colette;
- Kemp, Stephan;
- Troffer-Charlier, Nathalie;
- Broccoli, Vania;
- Callyzot, Noëlle;
- Mooyer, Petra;
- Selhorst, Jacqueline;
- Vreken, Peter;
- Wanders, Ronald J.A.;
- Mandel, Jean Louis;
- Pujol, Aurora
Publication type:
Article

Found: 7

Human α-N-acetylgalactosaminidase (α-NAGA) deficiency: no association with neuroaxonal dystrophy?

Known heat-shock proteins are not responsible for stress-induced rapid degradation of ribosomal protein mRNAs in yeast.

Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.

β-Ureidopropionase deficiency: A novel inborn error of metabolism discovered using NMR spectroscopy on urine.

Dihydropyrimidine dehydrogenase pharmacogenetics in Caucasian subjects.

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage.