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Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
Published in:
Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6
By:
- Huemer, Martina;
- Mulder-Bleile, Regina;
- Burda, Patricie;
- Froese, D.;
- Suormala, Terttu;
- Zeev, Bruria;
- Chinnery, Patrick;
- Dionisi-Vici, Carlo;
- Dobbelaere, Dries;
- Gökcay, Gülden;
- Demirkol, Mübeccel;
- Häberle, Johannes;
- Lossos, Alexander;
- Mengel, Eugen;
- Morris, Andrew;
- Niezen-Koning, Klary;
- Plecko, Barbara;
- Parini, Rossella;
- Rokicki, Dariusz;
- Schiff, Manuel
Publication type:
Article
A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 2, p. 361, doi. 10.1093/hmg/ddu448
By:
- Ferdinandusse, Sacha;
- Jimenez-Sanchez, Gerardo;
- Koster, Janet;
- Denis, Simone;
- Van Roermund, Carlo W.;
- Silva-Zolezzi, Irma;
- Moser, Ann B.;
- Visser, Wouter F.;
- Gulluoglu, Mine;
- Durmaz, Ozlem;
- Demirkol, Mubeccel;
- Waterham, Hans R.;
- Gökcay, Gülden;
- Wanders, Ronald J. A.;
- Valle, David
Publication type:
Article