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Journal Article
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
Kozich, Viktor ORCID: 0000-0001-5820-5277, Schwahn, Bernd C., Sokolova, Jitka, Krizkova, Michaela, Ditroi, Tamas, Krijt, Jakub ORCID: 0000-0002-1738-654X, Khalil, Youssef ORCID: 0000-0001-9025-3017, Krizek, Tomas, Vaculikova-Fantlova, Tereza, Stiburkova, Blanka, Mills, Philippa, Clayton, Peter, Barvikova, Kristyna, Blessing, Holger, Sykut-Cegielska, Jolanta, Dionisi-Vici, Carlo, Gasperini, Serena, Garcia-Cazorla, Angeles, Haack, Tobias B., Honzik, Tomas, Jesina, Pavel, Kuster, Alice, Laugwitz, Lucia, Martinelli, Diego, Porta, Francesco, Santer, Rene, Schwarz, Guenter and Nagy, Peter
(2022).
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol., 58.
AMSTERDAM:
ELSEVIER.
ISSN 2213-2317