Disease: Alpha-mannosidosis
- A Homozygous <em>MAN2B1</em> Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency
- A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an alpha-Mannosidase Deficiency
- Alpha-Mannosidosis
- Alpha-mannosidosis caused by toxic plants in ruminants of Argentina
- Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in <em>MAN2B1</em> Gene
- Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
- Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings
- Alpha-Mannosidosis: A Novel Cause of Bilateral Thalami and Dentate Nuclei Hyperintensity
- An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation
- Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders
- Audiological and radiological study of eight polish patients with alpha-mannosidosis
- Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA
- Beta-mannosidosis presenting predominantly with recurrent pulmonary infections, hemorrhage, and cystic lesions
- Biochemical characteristics of point mutated Capra hircus lysosome α-mannosidase
- Can velmanase alfa be the next widespread potential therapy for alpha mannosidosis?
- Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?
- Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population
- Catalytic Reaction Mechanism of Bacterial GH92 α-1,2-Mannosidase: A QM/MM Metadynamics Study
- Catalytic Reaction Mechanism of Bacterial GH92 alpha-1,2-Mannosidase: A QM/MM Metadynamics Study
- Catalytic Reaction Mechanism of Bacterial GH92 α-1,2-Mannosidase: A QM/MM Metadynamics Study
- Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease
- First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis
- Levodopa-Responsive Isolated Generalized Dystonia in a Patient with Alpha-Mannosidosis Due to a Novel Homozygous MAN2B1 Missense Variant-A Novel Association
- Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study
- Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis
- Long-term outcome of patients with alpha-mannosidosis - A single center study
- Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study
- Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study
- Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature
- Prenatal Diagnosis of c.437-1G>A Mutation in the MAN2B1 Gene in a Family With Alpha-Mannosidosis: Unraveling Clinical Presentation and Treatment Outcomes in a Novel Prenatal Case
- Relationship between <em>MAN2B1</em> genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis
- Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis
- The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis
- Widespread correction of brain pathology in feline alpha-mannosidosis by dose escalation of intracisternal AAV vector injection