Ulrike Schön

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Hereditary sensory and autonomic neuropathy 1 (HSAN1) is an autosomal dominant disorder that can be caused by variants in SPTLC1 or SPTLC2, encoding subunits of serine palmitoyl-CoA transferase. Disease variants alter the enzyme’s substrate specificity and lead to accumulation of neurotoxic 1-deoxysphingolipids. We describe two families with autosomal(More)
  • Dissertation Der Fakultät Für Geowissenschaften, Veronika Mayer, Wolfgang Heckl, Stefan Thalhammer, Universität Augsburg, Ulrike Schön +2 others
  • 2010
team for their extraordinary support and mentoring not only in experimental questions. for their encouragement and inspiration during the last three years. My colleagues Teresa Neumaier, Daniela Woide and Anna-Lena Idzko, I want to thank very much indeed for their friendship and a really great teamwork. Thanks a lot to all members of my working group and(More)
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