Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency

Autor: Amelie S. Lotz-Havla, Katharina Weiß, Katharina Schiergens, Stephanie Regenauer-Vandewiele, Klaus G. Parhofer, Tara Christmann, Luise Böhm, Joachim Havla, Esther M. Maier

Publikováno v: Frontiers in Neurology, Vol 12 (2021)

In phenylalanine hydroxylase (PAH) deficiency, an easily feasible method to access the progression of neurodegeneration is warranted to contribute to current discussions on treatment indications and targets. The objective of the present study was to

Externí odkaz: https://doaj.org/article/dc53cab277ff4e09819fe14c49b08d4f

Retinal axonal degeneration in Niemann-Pick type C disease

Autor: Susanne A. Schneider, Joachim Havla, Baccara Hizli, Tania Kümpfel, Regina Schinner, Tatiana Bremova-Ertl, Amelie S. Lotz-Havla, Marlene Moser, Michael Strupp, Esther M. Maier, Clara Sztatecsny

Publikováno v: Havla, Joachim; Moser, Marlene; Sztatecsny, Clara; Lotz-Havla, Amelie S; Maier, Esther M; Hizli, Baccara; Schinner, Regina; Kümpfel, Tania; Strupp, Michael; Bremova-Ertl, Tatiana; Schneider, Susanne A (2020). Retinal axonal degeneration in Niemann-Pick type C disease. Journal of neurology, 267(7), pp. 2070-2082. Springer-Medizin-Verlag 10.1007/s00415-020-09796-2
Journal of Neurology

Objective Niemann–Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. O

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d816af4d92bec07df78658859084c7b