Auflistung nach Autor "Harzer, Klaus"

Anzeige der Dokumente 1-17 von 17

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings

Harzer, Klaus; Beck-Wödl, Stefanie; Haack, Tobias (2022)
Assay of β-glucosidase 2 (GBA2) activity using lithocholic acid β-3-O-glucoside substrate for cultured fibroblasts and glucosylceramide for brain tissue

Harzer, Klaus; Beck-Wödl, Stefanie (2019)
Beta-glucosidase 1 (GBA1) is a second bile acid beta-glucosidase in addition to beta-glucosidase 2 (GBA2). Study in beta-glucosidase deficient mice and humans

Harzer, Klaus (2012)
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C

Gburek-Augustat, Janina; Kern, Jan; Just, Jennifer; Harzer, Klaus; Stampfer, Miriam; Gröschel, Samuel; Beck-Wödl, Stefanie; Krägeloh-Mann, Ingeborg (2020)
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

Böhringer, Judith; Pechan, Maria; Kustermann-Kuhn, Birgit; Handgretinger, Rupert; Schöls, Ludger; Harzer, Klaus; Krägeloh-Mann, Ingeborg (2017)
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

Harzer, Klaus (2013)
GM2 Gangliosidosis in an Adult Pet Rabbit

Harzer, Klaus; Kustermann-Kuhn, Birgit (2013)
High ß-glucosidase (GBA) activity not attributable to GBA1 and GBA2 in live normal and enzyme-deficient fibroblasts may emphasise the role of additional GBAs

Harzer, Klaus (2015)
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Beck-Wödl, Stefanie; Rieß, Olaf (2018)
Late onset Krabbe disease due to the new GALC p.A1a543Pro mutation, with intriguingly high residual GALC activity in vitro

Harzer, Klaus; Bornemann, Antje; Bevot, Andrea; Beck, Verena; Merkel, Gisela; Pechan, Maria; Krägeloh-Mann, Ingeborg; Beck-Wödl, Stefanie; Böhringer, Judith (2017)
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Beck-Wödl, Stefanie; Kehrer, Christiane; Harzer, Klaus; Haack, Tobias; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)
Lysosomale Speicherkrankheiten. Ein kurzer Abriss

Bornemann, Antje; Harzer, Klaus (2015)
Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene

Harzer, Klaus (2013)
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

Gröschel, Samuel; Kehrer, Christiane; Harzer, Klaus (2020)
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges

Santhanakumaran, Vidiyaah; Göschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Wödl, Stefanie; Hengel, Holger; Schöls, Ludger; Haack, Tobias; Krägeloh-Mann, Ingeborg; Laugwitz, Lucia (2022)
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy

Harzer, Klaus; Klose, Uwe; Bender, Benjamin; Scheffler, Klaus; Martin, Pascal Christopher; Hagberg, Gisela; Nägele, Thomas; Krägeloh-Mann, Ingeborg; Gröschel, Samuel (2021)
The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement

Bornemann, Antje; Biskup, Saskia; Mayrhofer, Heidi; Harzer, Klaus; Krägeloh-Mann, Ingeborg (2016)

Anzeige der Dokumente 1-17 von 17

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Auflistung nach Autor "Harzer, Klaus"

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