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Klaus Harzer

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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 23, 2017
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitroInge Krägeloh-Mann, Klaus Harzer, Kevin Rostásy, et al.
Human Mutation|December 26, 2001
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypesPeter Bauer, Rupert Knoblich, Claudia Bauer, et al.
JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
JIMD Reports|July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literatureLucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Molecular Genetics and Metabolism|February 5, 2023
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
Molecular Genetics and Metabolism|October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challengesVidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
Human Mutation|August 2, 2017
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cellsJudith Böhringer, René Santer, Neele Schumacher, et al.
Lancet (London, England)|November 22, 2005
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective studyArndt Rolfs, Tobias Böttcher, Marlies Zschiesche, et al.
American Journal of Medical Genetics. Part A|March 10, 2009
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutationsLadislav Kuchar, Jana Ledvinová, Martin Hrebícek, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 23, 2017
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitroInge Krägeloh-Mann, Klaus Harzer, Kevin Rostásy, et al.
Human Mutation|December 26, 2001
NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypesPeter Bauer, Rupert Knoblich, Claudia Bauer, et al.
JIMD Reports|March 17, 2021
Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohortStefanie Beck-Wödl, Christiane Kehrer, Klaus Harzer, et al.
JIMD Reports|July 13, 2022
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long-term follow-up and review of the literatureLucia Laugwitz, Vidiyaah Santhanakumaran, Mareike Spieker, et al.
Molecular Genetics and Metabolism|February 5, 2023
Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282Vidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
Molecular Genetics and Metabolism|October 14, 2022
Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challengesVidiyaah Santhanakumaran, Samuel Groeschel, Klaus Harzer, et al.
Human Mutation|August 2, 2017
Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cellsJudith Böhringer, René Santer, Neele Schumacher, et al.
Lancet (London, England)|November 22, 2005
Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective studyArndt Rolfs, Tobias Böttcher, Marlies Zschiesche, et al.
American Journal of Medical Genetics. Part A|March 10, 2009
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutationsLadislav Kuchar, Jana Ledvinová, Martin Hrebícek, et al.
Journal of Inherited Metabolic Disease|August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare diseaseLaura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Pageof 3