Research & Literature

Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Piraud M, Pettazzoni M, Menegaut L, et al.

Rapid communications in mass spectrometry : RCM 2017; (31(11)):951-963 doi:10.1002/rcm.7860.

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

McGovern MM, Dionisi-Vici C, Giugliani R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(9)):967-974 doi:10.1038/gim.2017.7.

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.

The structure of mammalian β-mannosidase provides insight into β-mannosidosis and nystagmus.

Gytz H, Liang J, Liang Y, et al.

The FEBS journal 2019; (286(7)):1319-1331 doi:10.1111/febs.14731.

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

Blomqvist M, Smeland MF, Lindgren J, et al.

Cold Spring Harbor molecular case studies 2019; (5(3)) doi:10.1101/mcs.a003954.

Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis.

Lund TC, Miller WP, Eisengart JB, et al.

Molecular genetics & genomic medicine 2019; (7(7)):e00712 doi:10.1002/mgg3.712.

Hereditary β-mannosidosis in a dog: Clinicopathological and molecular genetic characterization.

Bolfa P, Wang P, Nair R, et al.

Molecular genetics and metabolism 2019; (128(1-2)):137-143 doi:10.1016/j.ymgme.2019.08.002.

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.

Variant c.2158-2A>G in MANBA is an important and frequent cause of hereditary hearing loss and beta-mannosidosis among the Czech and Slovak Roma population- evidence for a new ethnic-specific variant.

Safka Brozkova D, Varga L, Uhrova Meszarosova A, et al.

Orphanet journal of rare diseases 2020; (15(1)):222 doi:10.1186/s13023-020-01508-3.

A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.

Mehta A, Ramaswami U, Muenzer J, et al.

Orphanet journal of rare diseases 2021; (16(1)):8 doi:10.1186/s13023-020-01645-9.

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.

Semeraro M, Sacchetti E, Deodato F, et al.

Orphanet journal of rare diseases 2021; (16(1)):24 doi:10.1186/s13023-020-01662-8.

Impact of the COVID-19 pandemic on the standard of care for patients with lysosomal storage diseases: A survey of healthcare professionals in the Fabry, Gaucher, and Hunter Outcome Survey registries.

Elstein D, Giugliani R, Muenzer J, et al.

Molecular genetics and metabolism reports 2021; (28()):100788 doi:10.1016/j.ymgmr.2021.100788.

Oral manifestation and dental treatment of pediatric patient with beta-mannosidosis: A case report.

Alshoraim MA, Al Agili DE

SAGE open medical case reports 2021; (9()):2050313X211065796 doi:10.1177/2050313X211065796.

Familial Global Developmental Delay Secondary to β-Mannosidosis.

Gowda VK, Nagarajan B, Suryanarayana SG, Srinivasan VM

Journal of pediatric neurosciences 2021; (16(2)):149-152 doi:10.4103/jpn.JPN_65_20.

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.

Hagemeijer MC, van den Bosch JC, Bongaerts M, et al.

Journal of inherited metabolic disease 2023; (46(2)):206-219 doi:10.1002/jimd.12597.

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.

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.

Expanding the Phenotype Spectrum of β-Mannosidosis.

Martin Rios AM, Gibbs LH, Stepien KM, et al.

Neurology. Genetics 2025; (11(6)):e200317 doi:10.1212/NXG.0000000000200317.

Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.

Casazza K, Kimonis V, Whitley CB, Jarnes JR

Molecular genetics and metabolism 2026; (148(2)):110129 doi:10.1016/j.ymgme.2026.110129.

Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.

Mungan NO, Tumer L, Sivri S, et al.

Healthcare (Basel, Switzerland) 2026; (14(9)) doi:10.3390/healthcare14091214.

Phenotype variability in six new patients with beta-mannosidosis.

Olivas M, Romano C, Martin A, et al.

Molecular genetics and metabolism 2026; (149(1-2)):110230 doi:10.1016/j.ymgme.2026.110230.