Johnson B, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien YH, Maródi L, Hwu WL, Bodamer OA.
Ann Lab Med. 2013, 33, 274-8
Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots
Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann
Publisher: J Inherit Metab Dis Report, 2013, 7, 99-102
Lyso-GB3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
Jan Lukas, Anne-Katrin Giese, Arseni Markoff, Ulrike Grittner, Ed Kolodny, Hermann Mascher, Karl J. Lackner, Wolfgang Meyer, Phillip
Wree, Viatcheslav Saviouk, Arndt Rolfs
PLOS Genetics, August 2013, Vol. 9, Issue 8, 1-10
Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease
Arndt Rolfs, Hermann Mascher, several authors
Stroke 2013, 44(2):340-9, Published online Jan. 10, 2013
Acute Cerebrovascular Disease in the Young: the Stroke in Young Fabry Patients (sifap) Study
Chien YH, Bodamer OA, Chiang SC, Mascher H, Hung C, Hwu WL.
J Inherit Metab Dis., 2012, Oct.
Lyso-globotriaosylsphingosine (lyso-Gb(3)) levels in neonates and adults with the Fabry Disease later-onset GLA IVS4+919G>A mutation
Jan Lukas, Joan Torras, Itziar Navarro, Anne-Katrin Giese, Tobias Böttcher, Hermann Mascher, Karl J. Lackner, Guenter Fauler, Eduard
Paschke, Josep M. Cruzado, Ales Dudesek, Matthias Wittstock, Wolfgang Meyer, Arndt Rolfs
Clinical Kidney Journal, 2012, 5, 395-400
Broad spectrum of Fabry Disease manifestation in an extended Spanish family with a new deletion in the GLA gene
Markus Niemann, Arndt Rolfs, Anne Giese, Hermann Mascher, Frank Breunig, Georg Ertl, Christoph Wanner, Frank Weidemann
Journal of Inherited Metabolic Disease Report, 2012, July
Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease
C. Tanislav, M. Kaps, A. Rolfs, T. Böttcher, K. Lackner, E. Paschke, H. Mascher, M. Laue, F. Blaes,
Eur J Neurol, 2011, 18, 631-636
Frequency of Fabry Disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study