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Title
Alpha-Mannosidosis: Therapeutic Strategies
Authors
Keywords
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Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 19, Issue 5, Pages 1500
Publisher
MDPI AG
Online
2018-05-17
DOI
10.3390/ijms19051500
References
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Related references
Note: Only part of the references are listed.- Improvement in fine and gross motor proficiency after long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha mannosidase) in alpha-mannosidosis patients
- (2017) Line Borgwardt et al. MOLECULAR GENETICS AND METABOLISM
- Long-term enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase) slows disease progression in adult patients suffering from alpha-mannosidosis
- (2017) Line Borgwardt et al. MOLECULAR GENETICS AND METABOLISM
- Emptying the stores: lysosomal diseases and therapeutic strategies
- (2017) Frances M. Platt NATURE REVIEWS DRUG DISCOVERY
- Long-term enzyme replacement therapy improves neurocognitive functioning and hippocampal synaptic plasticity in immune-tolerant alpha-mannosidosis mice
- (2017) Stijn Stroobants et al. NEUROBIOLOGY OF DISEASE
- Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
- (2016) Derralynn A Hughes et al. JOURNAL OF MEDICAL GENETICS
- amamutdb.no: A Relational Database forMAN2B1Allelic Variants that Compiles Genotypes, Clinical Phenotypes, and Biochemical and Structural Data of Mutant MAN2B1 in α-Mannosidosis
- (2015) Hilde Monica Frostad Riise Stensland et al. HUMAN MUTATION
- Molecular diagnosis of a Chinese pedigree with α-mannosidosis and identification of a novel missense mutation
- (2014) Xiaoyun Wu et al. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
- Lysosomal enzymes may cross the blood–brain-barrier by pinocytosis: Implications for Enzyme Replacement Therapy
- (2014) Guilherme Baldo et al. MEDICAL HYPOTHESES
- Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study
- (2013) L. Borgwardt et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Natural history of alpha mannosidosis a longitudinal study
- (2013) Michael Beck et al. Orphanet Journal of Rare Diseases
- Lysosomal di-N-acetylchitobiase-deficient mouse tissues accumulate Man2GlcNAc2 and Man3GlcNAc2
- (2012) Emanuele Persichetti et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Successful unrelated bone marrow transplantation in two siblings with alpha-mannosidosis
- (2012) Akif M. Yesilipek et al. PEDIATRIC TRANSPLANTATION
- Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients
- (2011) M Mynarek et al. BONE MARROW TRANSPLANTATION
- Molecular and cellular characterization of novel α-mannosidosis mutations
- (2011) Elina Kuokkanen et al. HUMAN MOLECULAR GENETICS
- Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations
- (2011) Hilde Monica Frostad Riise Stensland et al. HUMAN MUTATION
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
- (2010) Helena Poupětová et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy
- (2009) Ulrich Matzner et al. MOLECULAR THERAPY
- Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in α-mannosidosis mice
- (2008) Judith Blanz et al. HUMAN MOLECULAR GENETICS
- Alpha-mannosidosis
- (2008) Dag Malm et al. Orphanet Journal of Rare Diseases
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