Browsing Universitätsbibliographie by Author "Harzer, Klaus"

Now showing items 1-17 of 17

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

Harzer, Klaus; Beck-Woedl, Stefanie; Haack, Tobias B. (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; Yildiz, Yildiz; Beck-Woedl, 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; Blech-Hermoni, Yotam; Goldin, Ehud; Felderhoff-Mueser, Ursula; Igney, Claudia; Sidransky, Ellen; Yildiz, Yildiz (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; Groeschel, Samuel; Kern, Jan; Beck-Woedl, Stefanie; Just, Jennifer; Harzer, Klaus; Stampfer, Miriam; Kraegeloh-Mann, Ingeborg (2020)
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells

Boehringer, Judith; Santer, Rene; Schumacher, Neele; Gieseke, Friederike; Cornils, Kerstin; Pechan, Maria; Kustermann-Kuhn, Birgit; Handgretinger, Rupert; Schoels, Ludger; Harzer, Klaus; Kraegeloh-Mann, Ingeborg; Mueller, Ingo (2017)
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis

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

Rickmeyer, T.; Schoeniger, S.; Petermann, A.; Harzer, K.; Kustermann-Kuhn, B.; Fuhrmann, H.; Schoon, H. -A. (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; Yildiz, Yildiz (2015)
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease - a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck-Woedl, Stefanie; Harzer, Klaus; Sturm, Marc; Buchert, Rebecca; Riess, Olaf; Mennel, Hans-Dieter; Latta, Elisabeth; Pagenstecher, Axel; Keber, Ursula (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; Rostásy, Kevin; 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; Bürger, Friederike; Haas, Dorothea; Riess, Angelika; Gröschel, Samuel; Krägeloh-Mann, Ingeborg; Böhringer, Judith (2021)
Lysosomale Speicherkrankheiten. Ein kurzer Abriss

Bornemann, A.; 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

Alves, Mariana Q.; Le Trionnaire, Emmanuelle; Ribeiro, Isaura; Carpentier, Stephane; Harzer, Klaus; Levade, Thierry; Gil Ribeiro, M. (2013)
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease

Adang, Laura A.; Schlotawa, Lars; Groeschel, Samuel; Kehrer, Christiane; Harzer, Klaus; Staretz-Chacham, Orna; Silva, Thiago Oliveira; Schwartz, Ida Vanessa D.; Gaertner, Jutta; De Castro, Mauricio; Costin, Carrie; Montgomery, Esperanza Font; Dierks, Thomas; Radhakrishnan, Karthikeyan; Ahrens-Nicklas, Rebecca C. (2020)
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype?-Chances and challenges

Santhanakumaran, Vidiyaah; Groeschel, Samuel; Harzer, Klaus; Kehrer, Christiane; Elguen, Saskia; Beck-Woedl, Stefanie; Hengel, Holger; Schoels, Ludger; Haack, Tobias B.; Kraegeloh-Mann, Ingeborg; Laugwitz, Lucia (2022)
T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy

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

Hoertnagel, Konstanze; Kraegeloh-Mann, Inge; Bornemann, Antje; Doecker, Miriam; Biskup, Saskia; Mayrhofer, Heidi; Battke, Florian; du Bois, Gabriele; Harzer, Klaus (2016)

Now showing items 1-17 of 17

Report a Publication

Help

Browse

All of DSpace
This Community

Browsing Universitätsbibliographie by Author "Harzer, Klaus"

DSpace Repository

Browsing Universitätsbibliographie by Author "Harzer, Klaus"

Browse

All of DSpace

This Community

My Account