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6 Publikationen

2018 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2919061
Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement
Ahrens-Nicklas R, Schlotawa L, Ballabio A, Brunetti-Pierri N, De Castro M, Dierks T, Eichler F, Ficicioglu C, Finglas A, Gaertner J, Kirmse B, et al. (2018)
MOLECULAR GENETICS AND METABOLISM 123(3): 337-346.
PUB | DOI | WoS | PubMed | Europe PMC
 
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
 
2015 | Zeitschriftenaufsatz | Veröffentlicht | PUB-ID: 2780450
Eukaryotic formylglycine-generating enzyme catalyses a monooxygenase type of reaction
Peng J, Alam S, Radhakrishnan K, Mariappan M, Rudolph MG, May C, Dierks T, von Figura K, Schmidt B (2015)
FEBS Journal 282(17): 3262-3274.
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
 

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