Julia Jecel
Department of Neurology and Karl Landsteiner Insitute for neuroimmunological and neurodegenerative disorders, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, AustriaDanube Hospital/DonauspitalAustriaVienna, AustriaDepartment of Neurology and Karl Landsteiner Insitute for neuroimmunological and neurodegenerative disorders, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, Austria
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.
Klaus Harzer
Neurometabolic Laboratory, Klinik für Kinder-und Jugendmedizin, University of Tübingen, Hoppe-Seyler-Str.1, 72076 Tübingen, GermanyUniversity of TübingenGermanyTübingen, GermanyNeurometabolic Laboratory, Klinik für Kinder-und Jugendmedizin, University of Tübingen, Hoppe-Seyler-Str.1, 72076 Tübingen, Germany
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.
Eduard Paschke
Department of Pediatrics, University Hospital Graz, Auenbruggerplatz 34, 8036 Graz, AustriaUniversity Hospital GrazAustriaGraz, AustriaDepartment of Pediatrics, University Hospital Graz, Auenbruggerplatz 34, 8036 Graz, Austria
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.
Stefanie Beck-Wödl
Department of Medical Genetics, University Hospital Tübingen, Calwerstr. 7, 72076 Tübingen, GermanyUniversity Hospital TübingenGermanyTübingen, GermanyDepartment of Medical Genetics, University Hospital Tübingen, Calwerstr. 7, 72076 Tübingen, Germany
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.
Peter Bauer
Department of Medical Genetics, University Hospital Tübingen, Calwerstr. 7, 72076 Tübingen, GermanyUniversity Hospital TübingenGermanyTübingen, GermanyDepartment of Medical Genetics, University Hospital Tübingen, Calwerstr. 7, 72076 Tübingen, Germany
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Milos Hejtman
Department of Laboratory Medicine and Hematology, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, AustriaDanube Hospital/DonauspitalAustriaVienna, AustriaDepartment of Laboratory Medicine and Hematology, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, Austria
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.
Regina Katzenschlager
Department of Neurology and Karl Landsteiner Insitute for neuroimmunological and neurodegenerative disorders, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, AustriaDanube Hospital/DonauspitalAustriaVienna, AustriaDepartment of Neurology and Karl Landsteiner Insitute for neuroimmunological and neurodegenerative disorders, Danube Hospital/Donauspital, Langobardenstr. 122, 1220 Vienna, Austria
Authors’ Note
Julia Jecel, Klaus Harzer, Eduard Paschke, Stefanie Beck-Wödl, Peter Bauer, Milos Hejtman, and Regina Katzenschlager declare that they have no conflict of interest.
Author contributions
JJ, KH, EP, SB-W, PB, and RK jointly wrote the first draft of the manuscript; MH critically revised the manuscript for important intellectual content; JJ was responsible for the clinical care of the patients. EP was responsible for filipin testing. SB-W and PB performed the genetic testing. KH and MH reviewed the bone marrow smears. EP and MH contributed the images of the manuscript. All authors read and approved the final manuscript. Guarantor: JJ.