| 1 |
Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy
Ulrich Matzner, Eva M. Herbst, Kerstin Khalaj Hedayati et al. · Human Molecular Genetics
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16 Mar 2005 |
149 |
| 2 |
Natural history of alpha mannosidosis a longitudinal study
Michael Beck, Klaus J Olsen, James Edmond Wraith et al. · Orphanet Journal of Rare Diseases
Open access |
2013 |
74 |
| 3 |
Variations in Porphobilinogen and 5-Aminolevulinic Acid Concentrations in Plasma and Urine from Asymptomatic Carriers of the Acute Intermittent Porphyria Gene with Increased Porphyrin Precursor Excretion
Ylva Flodérus, Eliane Sardh, Christer Möller et al. · Clinical Chemistry
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24 Feb 2006 |
67 |
| 4 |
Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice
Judith Blanz, Stijn Stroobants, Renate Lüllmann‐Rauch et al. · Human Molecular Genetics
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19 Aug 2008 |
66 |
| 5 |
Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy
Ulrich Matzner, Renate Lüllmann‐Rauch, Stijn Stroobants et al. · Molecular Therapy
Open access |
27 Jan 2009 |
66 |
| 6 |
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha‐mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double‐blind, randomised, placebo‐controlled trial
Line Gutte Borgwardt, Nathalie Guffon, Yasmina Amraoui et al. · Journal of Inherited Metabolic Disease
Open access |
30 May 2018 |
65 |
| 7 |
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
Line Gutte Borgwardt, Hilde Monica Frostad Riise Stensland, Klaus J Olsen et al. · Orphanet Journal of Rare Diseases
Open access |
5 Jun 2015 |
61 |
| 8 |
Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis
Allan Meldgaard Lund et al. · Journal of Inherited Metabolic Disease
Open access |
3 May 2018 |
58 |
| 9 |
Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy
Stijn Stroobants, D. Gerlach, Frank Matthes et al. · Human Molecular Genetics
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22 Apr 2011 |
58 |
| 10 |
Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age
Frank Matthes, Stijn Stroobants, D. Gerlach et al. · Human Molecular Genetics
Open access |
2 Mar 2012 |
53 |
| 11 |
Enzyme replacement therapy for alpha‐mannosidosis: 12 months follow‐up of a single centre, randomised, multiple dose study
Lise Borgwardt et al. · Journal of Inherited Metabolic Disease
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13 Mar 2013 |
45 |
| 12 |
Safety, Pharmacokinetics and Pharmocodynamics of Recombinant Human Porphobilinogen Deaminase in Healthy Subjects and Asymptomatic Carriers of the Acute Intermittent Porphyria Gene Who Have Increased Porphyrin Precursor Excretion
Eliane Sardh, Lillan Rejkj r, Dan Andersson et al. · Clinical Pharmacokinetics
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2007 |
44 |
| 13 |
Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy
Frank Matthes, Claes R. Andersson, Axel Stein et al. · Experimental Neurology
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6 May 2015 |
39 |
| 14 |
Non-inhibitory antibodies impede lysosomal storage reduction during enzyme replacement therapy of a lysosomal storage disease
Ulrich Matzner, Frank Matthes, Cecilia Weigelt et al. · Journal of Molecular Medicine
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17 Mar 2008 |
35 |
| 15 |
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines
Stephan Schröder, Frank Matthes, Pia Hydén et al. · Glycobiology
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28 Oct 2009 |
26 |
| 16 |
Cerebellar Alterations and Gait Defects as Therapeutic Outcome Measures for Enzyme Replacement Therapy in α-Mannosidosis
Markus Damme, Stijn Stroobants, Steven U. Walkley et al. · Journal of Neuropathology & Experimental Neurology
Open access |
11 Dec 2010 |
26 |
| 17 |
Induction of Tolerance to Human Arylsulfatase A in a Mouse Model of Metachromatic Leukodystrophy
Ulrich Matzner, Frank Matthes, Eva M. Herbst et al. · Molecular Medicine
Open access |
Sep 2007 |
25 |
| 18 |
Transport of Arylsulfatase A across the Blood-Brain Barrier in Vitro
Frank Matthes, Philipp Wölte, Annika Böckenhoff et al. · Journal of Biological Chemistry
Open access |
29 Mar 2011 |
25 |
| 19 |
Impaired Lysosomal Trimming of N-Linked Oligosaccharides Leads to Hyperglycosylation of Native Lysosomal Proteins in Mice with α-Mannosidosis
Markus Daμμe, Willy Morelle, Bernhard F. Schmidt et al. · Molecular and Cellular Biology
Open access |
3 Nov 2009 |
21 |
| 20 |
Cognitive profile and activities of daily living: 35 patients with alpha‐mannosidosis
Lise Borgwardt, A. M. Thuesen, K. J. Olsen et al. · Journal of Inherited Metabolic Disease
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27 May 2015 |
20 |
| 21 |
Determination of amitriptyline-n-oxide, amitriptyline and nortriptyline in serum and plasma by high-performance liquid chromatography
Karen Møller Jensen · Journal of Chromatography B Biomedical Sciences and Applications
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Sep 1980 |
17 |
| 22 |
Alpha‐mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function
Lise Borgwardt, Else Rubæk Danielsen, Cecilie Dubgaard Thomsen et al. · Clinical Genetics
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23 Jul 2015 |
16 |
| 23 |
Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice
Stijn Stroobants, Markus Daμμe, Ann Van der Jeugd et al. · Neurobiology of Disease
Open access |
15 Jul 2017 |
12 |
| 24 |
Chronic enzyme replacement therapy ameliorates neuropathology in alpha‐mannosidosis mice
Markus Daμμe, Stijn Stroobants, Meike Lüdemann et al. · Annals of Clinical and Translational Neurology
Open access |
19 Sep 2015 |
8 |
| 25 |
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
Line Gutte Borgwardt et al. · Molecular Genetics and Metabolism
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2017 |
5 |
| 26 |
Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients
Line Gutte Borgwardt et al. · Molecular Genetics and Metabolism
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2017 |
3 |
| 27 |
Enzyme Replacement Therapy for Patients with Alpha-Mannosidosis
Line Gutte Borgwardt, Christine í Dali, Jens M. Fogh et al. · Molecular Genetics and Metabolism
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20 Jan 2012 |
2 |
| 28 |
Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) improves mobility in alpha-mannosidosis patients
Allan Meldgaard Lund et al. · Molecular Genetics and Metabolism
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2017 |
1 |
| 29 |
Improvement in pulmonary function and serum immunoglobulin G in long-term enzyme replacement therapy with velmanase alfa(human recombinant alpha-mannosidase) in alpha-mannosidosis patients
Line Gutte Borgwardt et al. · Molecular Genetics and Metabolism
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2017 |
0 |