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Journal Article
Jakubiczka-Smorag, Joanna, Santamaria-Araujo, Jose Angel, Metz, Imke, Kumar, Avadh, Hakroush, Samy, Brueck, Wolfgang, Schwarz, Guenter 
ORCID: 0000-0002-2118-9338, Burfeind, Peter, Reiss, Jochen and Smorag, Lukasz
(2016).
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.
Hum. Genet., 135 (7).
S. 813 - 827.
NEW YORK:
SPRINGER.
ISSN 1432-1203
Mayr, Simon Julius, Sass, Joern Oliver, Vry, Julia, Kirschner, Janbernd ORCID: 0000-0003-1618-7386, Mader, Irina, Hoevener, Jan-Bernd, Reiss, Jochen, Santamaria-Araujo, Jose Angel, Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Gruenert, Sarah Catharina
(2018).
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
J. Inherit. Metab. Dis., 41 (2).
S. 187 - 197.
DORDRECHT:
SPRINGER.
ISSN 1573-2665