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6 Publikationen

2017 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2916520
Expanding the genetic cause of multiple sulfatase deficiency: A novel SUMF1 variant in a patient displaying a severe late infantile form of the disease
Jaszczuk I, Schlotawa L, Dierks T, Ohlenbusch A, Koppenhoefer D, Babicz M, Lejman M, Radhakrishnan K, Lugowska A (2017)
MOLECULAR GENETICS AND METABOLISM 121(3): 252-258.
PUB | DOI | WoS | PubMed | Europe PMC
 
2013 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2625696
Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency
Schlotawa L, Radhakrishnan K, Baumgartner M, Schmid R, Schmidt B, Dierks T, Gaertner J (2013)
European Journal Of Human Genetics 21(9): 1020-1023.
PUB | DOI | WoS | PubMed | Europe PMC
 
2011 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2003211
SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency
Schlotawa L, Ennemann E, Radhakrishnan K, Schmidt B, Chakrapani A, Christen H-J, Moser H, Steinmann B, Dierks T, Gaertner J (2011)
European Journal of Human Genetics 19(3): 253-261.
PUB | DOI | WoS | PubMed | Europe PMC
 
2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1634198
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins
Dierks T, Schlotawa L, Frese M-A, Radhakrishnan K, von Figura K, Schmidt B (2009)
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH 1793(4): 710-725.
PUB | DOI | WoS | PubMed | Europe PMC
 
2009 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1633371
Neonatal manifestation of multiple sulfatase deficiency
Busche A, Hennermann JB, Buerger F, Proquitte H, Dierks T, von Arnim-Baas A, Horn D (2009)
EUROPEAN JOURNAL OF PEDIATRICS 168(8): 969-973.
PUB | DOI | WoS | PubMed | Europe PMC
 
2007 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 1593622
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum
Zito E, Buono M, Pepe S, Settembre C, Annunziata I, Surace EM, Dierks T, Monti M, Cozzolino M, Pucci P, Ballabio A, et al. (2007)
EMBO JOURNAL 26(10): 2443-2453.
PUB | DOI | WoS | PubMed | Europe PMC
 

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