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Number of items: 3.

Journal Article

Coelho, David ORCID: 0000-0001-7010-5789, Kim, Jaeseung C., Miousse, Isabelle R. ORCID: 0000-0001-6543-3219, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nuernberg, Peter, Thiele, Holger, Robenek, Horst, Hoehne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A., Majewski, Jacek, Rosenblatt, David S., Fowler, Brian, Rutsch, Frank and Baumgartner, Matthias R. (2012). Mutations in ABCD4 cause a new inborn error of vitamin B-12 metabolism. Nature Genet., 44 (10). S. 1152 - 1158. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1061-4036

Huemer, Martina ORCID: 0000-0002-0590-678X, Mulder-Bleile, Regina, Burda, Patricie, Froese, D. Sean, Suormala, Terttu, Ben Zeev, Bruria, Chinnery, Patrick F., Dionisi-Vici, Carlo ORCID: 0000-0002-0007-3379, Dobbelaere, Dries, Gokcay, Gulden, Demirkol, Muebeccel, Haeberle, Johannes, Lossos, Alexander, Mengel, Eugen, Morris, Andrew A., Niezen-Koning, Klary E., Plecko, Barbara ORCID: 0000-0002-3203-1325, Parini, Rossella ORCID: 0000-0003-4505-1306, Rokicki, Dariusz ORCID: 0000-0002-9736-2838, Schiff, Manuel ORCID: 0000-0001-8272-232X, Schimmel, Mareike, Sewell, Adrian C., Sperl, Wolfgang, Spiekerkoetter, Ute, Steinmann, Beat, Taddeucci, Grazia, Trejo-Gabriel-Galan, Jose M., Trefz, Friedrich, Tsuji, Megumi, Antonia Vilaseca, Maria, von Kleist-Retzow, Juergen-Christoph, Walker, Valerie, Zeman, Jiri ORCID: 0000-0002-2678-7919, Baumgartner, Matthias R. and Fowler, Brian (2016). Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. J. Inherit. Metab. Dis., 39 (1). S. 115 - 125. HOBOKEN: WILEY. ISSN 1573-2665

Vom Dahl, Stephan and Mengel, Eugen (2010). Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly. Best Pract. Res. Clin. Gastroenterol., 24 (5). S. 619 - 629. OXFORD: ELSEVIER SCI LTD. ISSN 1532-1916

This list was generated on Thu Mar 28 23:54:42 2024 CET.