Research & Literature

Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis.

Borgwardt L, Thuesen AM, Olsen KJ, et al.

Journal of inherited metabolic disease 2015; (38(6)):1119-27 doi:10.1007/s10545-015-9862-4.

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

Harmatz P, Cattaneo F, Ardigò D, et al.

Molecular genetics and metabolism 2018; (124(2)):152-160 doi:10.1016/j.ymgme.2018.04.003.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

Lund AM, Borgwardt L, Cattaneo F, et al.

Journal of inherited metabolic disease 2018; (41(6)):1225-1233 doi:10.1007/s10545-018-0175-2.

Alpha-Mannosidosis: Therapeutic Strategies.

Ceccarini MR, Codini M, Conte C, et al.

International journal of molecular sciences 2018; (19(5)) doi:10.3390/ijms19051500.

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.

Borgwardt L, Guffon N, Amraoui Y, et al.

Journal of inherited metabolic disease 2018; (41(6)):1215-1223 doi:10.1007/s10545-018-0185-0.

Retinal and optic nerve degeneration in α-mannosidosis.

Matlach J, Zindel T, Amraoui Y, et al.

Orphanet journal of rare diseases 2018; (13(1)):88 doi:10.1186/s13023-018-0829-z.

UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring.

Huang R, Cathey S, Pollard L, Wood T

Clinical chemistry 2018; (64(12)):1772-1779 doi:10.1373/clinchem.2018.289645.

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.

Guffon N, Tylki-Szymanska A, Borgwardt L, et al.

Molecular genetics and metabolism 2019; (126(4)):470-474 doi:10.1016/j.ymgme.2019.01.024.

Pharmacological Chaperones for the Treatment of α-Mannosidosis.

Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, et al.

Journal of medicinal chemistry 2019; (62(12)):5832-5843 doi:10.1021/acs.jmedchem.9b00153.

Disease progression of alpha-mannosidosis and impact on patients and carers - A UK natural history survey.

Adam J, Malone R, Lloyd S, et al.

Molecular genetics and metabolism reports 2019; (20()):100480 doi:10.1016/j.ymgmr.2019.100480.

Ultra-orphan lysosomal storage diseases: A cross-sectional quantitative analysis of the natural history of alpha-mannosidosis.

Zielonka M, Garbade SF, Kölker S, et al.

Journal of inherited metabolic disease 2019; (42(5)):975-983 doi:10.1002/jimd.12138.

Hearing impairment as an early sign of alpha-mannosidosis in children with a mild phenotype: Report of seven new cases.

Lehalle D, Colombo R, O'Grady M, et al.

American journal of medical genetics. Part A 2019; (179(9)):1756-1763 doi:10.1002/ajmg.a.61273.

Intellectual functioning in alpha-mannosidosis.

Cathey SS, Sarasua SM, Simensen R, et al.

JIMD reports 2019; (50(1)):44-49 doi:10.1002/jmd2.12073.

Comprehensive cardiopulmonary assessment in α mannosidosis.

Nir V, Bentur L, Tal G, et al.

Pediatric pulmonology 2020; (55(9)):2348-2353 doi:10.1002/ppul.24864.

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Naumchik BM, Gupta A, Flanagan-Steet H, et al.

Cells 2020; (9(6)) doi:10.3390/cells9061411.

Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosis.

Santoro L, Zampini L, Padella L, et al.

JIMD reports 2020; (55(1)):15-21 doi:10.1002/jmd2.12144.

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.

Hennermann JB, Guffon N, Cattaneo F, et al.

Orphanet journal of rare diseases 2020; (15(1)):271 doi:10.1186/s13023-020-01549-8.

Caregivers' and Physicians' Perspectives on Alpha-Mannosidosis: A Report from Italy.

Verrecchia E, Sicignano LL, Massaro MG, et al.

Advances in therapy 2021; (38(1)):1-10 doi:10.1007/s12325-020-01574-w.

White matter alteration and cerebellar atrophy are hallmarks of brain MRI in alpha-mannosidosis.

Majovska J, Nestrasil I, Paulson A, et al.

Molecular genetics and metabolism 2021; (132(3)):189-197 doi:10.1016/j.ymgme.2020.11.008.

Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.

Mkaouar R, Riahi Z, Charfeddine C, et al.

PloS one 2021; (16(10)):e0258202 doi:10.1371/journal.pone.0258202.

Long-term outcome of patients with alpha-mannosidosis - A single center study.

Lipiński P, Różdżyńska-Świątkowska A, Iwanicka-Pronicka K, et al.

Molecular genetics and metabolism reports 2022; (30()):100826 doi:10.1016/j.ymgmr.2021.100826.

Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.

Hennermann JB, Raebel EM, Donà F, et al.

Orphanet journal of rare diseases 2022; (17(1)):287 doi:10.1186/s13023-022-02422-6.

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.

Guffon N, Konstantopoulou V, Hennermann JB, et al.

Journal of inherited metabolic disease 2023; (46(4)):705-719 doi:10.1002/jimd.12602.

The Application of HPLC-FLD and NMR in the Monitoring of Therapy Efficacy in Alpha-Mannosidosis.

Krchňák M, Kodríková R, Matulová M, et al.

Frontiers in bioscience (Landmark edition) 2023; (28(2)):39 doi:10.31083/j.fbl2802039.

Relationship between MAN2B1 genotype/subcellular localization subgroups, antidrug antibody detection, and long-term velmanase alfa treatment outcomes in patients with alpha-mannosidosis.

Borgwardt LG, Ceravolo F, Zardi G, et al.

JIMD reports 2023; (64(2)):187-198 doi:10.1002/jmd2.12349.

First experience of combined enzyme replacement therapy and hematopoietic stem cell transplantation in alpha-mannosidosis.

Santoro L, Monachesi C, Zampini L, et al.

American journal of medical genetics. Part A 2023; (191(7)):1948-1952 doi:10.1002/ajmg.a.63210.

Audiological and radiological study of eight polish patients with alpha-mannosidosis.

Iwanicka-Pronicka K, Guzek A, Sarnecki J, Tylki-Szymańska A

International journal of pediatric otorhinolaryngology 2023; (169()):111556 doi:10.1016/j.ijporl.2023.111556.

Can velmanase alfa be the next widespread potential therapy for alpha-mannosidosis?

Abdul Ghani S, Burney S, Ul Hussain H, et al.

International journal of surgery (London, England) 2023; (109(9)):2882-2885 doi:10.1097/JS9.0000000000000528.

A Homozygous MAN2B1 Missense Mutation in a Doberman Pinscher Dog with Neurodegeneration, Cytoplasmic Vacuoles, Autofluorescent Storage Granules, and an α-Mannosidase Deficiency.

Bullock G, Johnson GS, Pattridge SG, et al.

Genes 2023; (14(9)) doi:10.3390/genes14091746.

Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.

Bertolini A, Rigoldi M, Cianflone A, et al.

Clinical dysmorphology 2024; (33(1)):1-8 doi:10.1097/MCD.0000000000000474.

Alpha-mannosidosis: a case with novel ultrastructural and light microscopy findings.

Leong M, Sathi B, Davis A, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(12)):1186-1190 doi:10.1515/jpem-2023-0357.

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population.

Park JE, Lee T, Ha K, et al.

Frontiers in genetics 2023; (14()):1297543 doi:10.3389/fgene.2023.1297543.

An unusual diagnosis of alpha-mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.

Uguen K, Redon S, Rouault K, et al.

American journal of medical genetics. Part A 2024; (194(5)):e63532 doi:10.1002/ajmg.a.63532.

Long-term clinical evaluation of patients with alpha-mannosidosis - A multicenter study.

Köse E, Kasapkara ÇS, İnci A, et al.

European journal of medical genetics 2024; (68()):104927 doi:10.1016/j.ejmg.2024.104927.

Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.

Santoro L, Cefalo G, Canalini F, et al.

Molecular genetics and metabolism 2024; (142(1)):108444 doi:10.1016/j.ymgme.2024.108444.

Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.

Guffon N, Burton BK, Ficicioglu C, et al.

Molecular genetics and metabolism 2024; (142(4)):108519 doi:10.1016/j.ymgme.2024.108519.

Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosis.

Guffon N, Borgwardt L, Tylki-Szymańska A, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12799 doi:10.1002/jimd.12799.

α-mannosidosis diagnosis in Brazilian patients with MPS-like symptoms.

Marins M, Curiati MA, Gomes CP, et al.

Orphanet journal of rare diseases 2024; (19(1)):439 doi:10.1186/s13023-024-03419-z.

Analysis of serum oligosaccharides by UPLC-MS/MS for diagnosis and treatment monitoring of patients with alpha-mannosidosis.

Kubaski F, Cason A, Herbst ZAM, et al.

Molecular genetics and metabolism 2025; (144(3)):109042 doi:10.1016/j.ymgme.2025.109042.

Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAE.

Saad AK, Al-Hammadi T, Al-Ameri S, et al.

JIMD reports 2025; (66(2)):e70001 doi:10.1002/jmd2.70001.

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Venezia M, Vinci M, Colomba P, et al.

Biomedicines 2025; (13(5)) doi:10.3390/biomedicines13051199.

Outcome of Haemopoietic Stem Cell Transplantation in 21 Patients With Alpha-Mannosidosis.

Šáhó R, Formánková R, Eisengart JB, et al.

Journal of inherited metabolic disease 2025; (48(4)):e70047 doi:10.1002/jimd.70047.

Delayed diagnosis and clinical course of alpha-mannosidosis: A retrospective study of 25 patients with varying severity.

Nurse JH, Hennermann JB, Curiati MA, et al.

Genetics in medicine open 2025; (3()):103465 doi:10.1016/j.gimo.2025.103465.

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant.

Al Tai MR, Saadi NW, Alothman MS, et al.

Molecular genetics and metabolism reports 2026; (46()):101282 doi:10.1016/j.ymgmr.2025.101282.

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Dörfel D, Dreyer B, Lindschau M, et al.

Journal of inherited metabolic disease 2026; (49(3)):e70208 doi:10.1002/jimd.70208.

Early-Onset Retinal Dystrophy in Alpha-Mannosidosis: A Case Report.

Almhmoudi F, Bamusa A, Alrashid A, et al.

Case reports in ophthalmology 2026; (17(1)):471-478 doi:10.1159/000551949.

Clinical outcomes in alpha-mannosidosis: a systematic review of therapeutic approaches.

Azzi A, Shlhoob RB, Al-Shehri H

Orphanet journal of rare diseases 2026; (21(1)).

Alpha-Mannosidosis in a 3.5-Year-Old Girl: A Case Report.

Bonilla Fornes S, Mendez Perez MP, Torres Diaz M, et al.

Clinical case reports 2026; (14(8)):e73276 doi:10.1002/ccr3.73276.