Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Klaus, Harzer"'
Autor:
Lucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, Judith Boehringer, Benjamin Bender, Volkmar Gieselmann, Stefanie Beck‐Woedl, Gernot Bruchelt, Klaus Harzer, Ingeborg Kraegeloh‐Mann, Samuel Groeschel
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 292-302 (2022)
Abstract Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing variants and individuals harbouring pseudodeficiency alleles in
Externí odkaz:
https://doaj.org/article/4a3ea2bf39934c278c9a7f0dbf03854f
Autor:
Stefanie Beck‐Wödl, Christiane Kehrer, Klaus Harzer, Tobias B. Haack, Friederike Bürger, Dorothea Haas, Angelika Rieß, Samuel Groeschel, Ingeborg Krägeloh‐Mann, Judith Böhringer
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 80-88 (2021)
Abstract Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimag
Externí odkaz:
https://doaj.org/article/e1a3ff9a3fa64c99b18ee68dbf364159
Autor:
Stefanie Beck-Wödl, Klaus Harzer, Marc Sturm, Rebecca Buchert, Olaf Rieß, Hans-Dieter Mennel, Elisabeth Latta, Axel Pagenstecher, Ursula Keber
Publikováno v:
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-15 (2018)
Abstract Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, charact
Externí odkaz:
https://doaj.org/article/940ccc65bbc64518b8c463bd8eef7ec1
Autor:
Vidiyaah, Santhanakumaran, Samuel, Groeschel, Klaus, Harzer, Christiane, Kehrer, Saskia, Elgün, Stefanie, Beck-Wödl, Holger, Hengel, Ludger, Schöls, Tobias B, Haack, Ingeborg, Krägeloh-Mann, Lucia, Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 137:273-282
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase A (ARSA). Subsequent accumulation of sulfatides leads to demyelination and neurodegeneration in the central and peripheral ne
Publikováno v:
Journal of Cutaneous Pathology. 49:293-298
Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSD) have also been identified as triggers of ACD.
Autor:
Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, Christiane Kehrer, Saskia Elgün, Stefanie Beck-Wödl, Holger Hengel, Ludger Schöls, Tobias B. Haack, Ingeborg Krägeloh-Mann, Lucia Laugwitz
Publikováno v:
Molecular Genetics and Metabolism. 138:107372
Autor:
Samuel Groeschel, Benjamin Bender, Uwe Klose, Klaus Scheffler, Thomas Nägele, Klaus Harzer, Ingeborg Krägeloh-Mann, Thomas Schultz, Gisela E. Hagberg, Pascal Martin
Publikováno v:
Clinical Neuroradiology
Purpose T2-weighted signal hyperintensities in white matter (WM) are a diagnostic finding in brain magnetic resonance imaging (MRI) of patients with metachromatic leukodystrophy (MLD). In our systematic investigation of the evolution of T2-hyperinten
Autor:
Thomas Dierks, Laura Adang, Thiago Oliveira Silva, Mauricio De Castro, Rebecca C. Ahrens-Nicklas, Klaus Harzer, Lars Schlotawa, Esperanza Font Montgomery, Orna Staretz-Chacham, Karthikeyan Radhakrishnan, Carrie Costin, Ida Vanessa Doederlein Schwartz, Samuel Groeschel, Christiane Kehrer, Jutta Gärtner
Publikováno v:
Journal of Inherited Metabolic Disease
BACKGROUND: Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder caused by pathogenic variants in SUMF1. This gene encodes formylglycine-generating enzyme (FGE), a protein required for sulfatase activation. The clinical cou
Autor:
Julia Jecel MD, Klaus Harzer MD, Eduard Paschke MD, Stefanie Beck-Wödl PhD, Peter Bauer MD, Milos Hejtman MD, Regina Katzenschlager MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 3 (2015)
Niemann-Pick disease type C (NP-C) is a rare autosomal-recessive neurovisceral lysosomal storage disease. We report on a juvenile onset, now 25-year-old female patient with typical neurologic symptoms, including vertical gaze palsy, of NP-C. The diag
Externí odkaz:
https://doaj.org/article/131059c19cf646209d7ff25627ee9170
Autor:
Jan Kern, Janina Gburek-Augustat, Klaus Harzer, Miriam Stampfer, I. Kraegeloh-Mann, Samuel Groeschel, Stefanie Beck-Woedl, Jennifer Just
Publikováno v:
Neuropediatrics. 51:037-044
Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the infantile and juvenile onset forms. Methods Thirty-two cerebral MRI s