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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