Research & Literature

Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid Excretion.

Schene IF, Kalinina Ayuso V, de Sain-van der Velden M, et al.

JIMD reports 2016; (25()):9-13 doi:10.1007/8904_2015_472.

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

Sheth J, Mistri M, Bhavsar R, et al.

Indian pediatrics 2015; (52(12)):1029-33 doi:10.1007/s13312-015-0768-x.

Optical coherence tomography findings in a patient with type 1 sialidosis.

Kersten HM, Roxburgh RH, Danesh-Meyer HV, Hutchinson DO

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2016; (31()):199-201.

Sialidoses.

Franceschetti S, Canafoglia L

Epileptic disorders : international epilepsy journal with videotape 2016; (18(S2)):89-93 doi:10.1684/epd.2016.0845.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Mütze U, Bürger F, Hoffmann J, et al.

Molecular genetics and metabolism reports 2017; (10()):1-4 doi:10.1016/j.ymgmr.2016.11.004.

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

Mohammad AN, Bruno KA, Hines S, Atwal PS

Molecular genetics and metabolism reports 2018; (15()):11-14 doi:10.1016/j.ymgmr.2017.12.005.

Tay-Sachs disease: a novel mutation from India.

Khera D, John J, Singh K, Faruq M

BMJ case reports 2018; (11(1)) doi:10.1136/bcr-2018-225916.

Type 1 Sialidosis Patient With a Novel Deletion Mutation in the NEU1 Gene: Case Report and Literature Review.

Ahn JH, Kim AR, Lee C, et al.

Cerebellum (London, England) 2019; (18(3)):659-664 doi:10.1007/s12311-019-1005-2.

Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene.

Fan SP, Lee NC, Lin CH

Journal of the Formosan Medical Association = Taiwan yi zhi 2020; (119(1 Pt 3)):406-412 doi:10.1016/j.jfma.2019.07.017.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Orsini A, Valetto A, Bertini V, et al.

Seizure 2019; (71()):247-257 doi:10.1016/j.seizure.2019.08.012.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

Arash-Kaps L, Komlosi K, Seegräber M, et al.

The Journal of pediatrics 2019; (215()):152-157.e3 doi:10.1016/j.jpeds.2019.08.016.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Mosca R, van de Vlekkert D, Campos Y, et al.

Journal of clinical medicine 2020; (9(3)) doi:10.3390/jcm9030695.

Heterozygous structural variation mimicking homozygous missense mutations in NEU1 associated with presenting clinical signs in eyes alone.

Li X, Zhang Q

Ophthalmic genetics 2020; (41(3)):279-283 doi:10.1080/13816810.2020.1747085.

Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Han X, Wu S, Wang M, et al.

Molecular genetics & genomic medicine 2020; (8(8)):e1316 doi:10.1002/mgg3.1316.

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Lv RJ, Li TR, Zhang YD, et al.

Annals of clinical and translational neurology 2020; (7(6)):911-923 doi:10.1002/acn3.51058.

Identification of a homozygous deletion of the NEU1 gene in a patient with type II sialidosis presenting isolated fetal ascites and central nervous system hypoplasia.

Mitsiakos G, Gialamprinou D, Chouchou P, et al.

Hippokratia 2019; (23(4)):169-171.

Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients.

Coppola A, Ianniciello M, Vanli-Yavuz EN, et al.

Brain sciences 2020; (10(8)) doi:10.3390/brainsci10080506.

A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot.

Daich Varela M, Zein WM, Toro C, et al.

The British journal of ophthalmology 2021; (105(6)):838-843 doi:10.1136/bjophthalmol-2020-316826.

Galactosialidosis Type IIb with Bilateral Macular Cherry-Red Spots but Mild Dysfunction.

Fukuyo H, Inoue Y, Takahashi H, et al.

Case reports in ophthalmology 2020; (11(2)):306-314 doi:10.1159/000508066.

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Neeraja K, Holla VV, Prasad S, et al.

Journal of movement disorders 2021; (14(1)):65-69 doi:10.14802/jmd.20083.

Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1.

Klein JJ, Baker NC, Foil DH, et al.

ACS omega 2021; (6(4)):3186-3193 doi:10.1021/acsomega.0c05591.

Hematopoietic cell transplantation for sialidosis type I.

Gupta AO, Patterson MC, Wood T, et al.

Molecular genetics and metabolism reports 2022; (30()):100832 doi:10.1016/j.ymgmr.2021.100832.

Ascites in infantile onset type II Sialidosis.

Tazi K, Guy-Viterbo V, Gheldof A, et al.

JIMD reports 2022; (63(4)):316-321 doi:10.1002/jmd2.12305.

Optical Coherence Tomography Findings in Cherry-Red Spot: Implications for Understanding Pathophysiology and Visual Prognosis.

Lee T, Velez FG, Galoyan N, et al.

Journal of pediatric ophthalmology and strabismus 2023; (60(6)):435-440 doi:10.3928/01913913-20230123-01.

Severe kidney dysfunction in sialidosis mice reveals an essential role for neuraminidase 1 in reabsorption.

Kho I, Demina EP, Pan X, et al.

JCI insight 2023; (8(20)).

Lysosomal sialidase NEU1, its intracellular properties, deficiency, and use as a therapeutic agent.

Itoh K, Tsukimoto J

Glycoconjugate journal 2023; (40(6)):611-619 doi:10.1007/s10719-023-10135-6.

Gene therapy corrects the neurological deficits of mice with sialidosis.

Hwu WL, Chang K, Liu YH, et al.

Gene therapy 2024; (31(5-6)):263-272 doi:10.1038/s41434-024-00443-3.

Sialidosis type 1 without cherry-red spots: a case report and literature review.

Zhang C, Liao Z, Zhou Y, Su X

BMJ neurology open 2024; (6(1)):e000498 doi:10.1136/bmjno-2023-000498.

Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.

Li Y, Liu Y, Wang R, et al.

Journal of movement disorders 2024; (17(3)):282-293 doi:10.14802/jmd.23145.

AAV-mediated gene therapy for sialidosis.

van de Vlekkert D, Hu H, Weesner JA, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2024; (32(7)):2094-2112 doi:10.1016/j.ymthe.2024.05.029.

Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.

Lin J, Li YL, Chen BL, et al.

Annals of clinical and translational neurology 2024; (11(11)):2998-3009 doi:10.1002/acn3.52212.

Two cases of type I sialidosis and a literature review.

Ding Y, Cheng M, Gong C

Orphanet journal of rare diseases 2024; (19(1)):440 doi:10.1186/s13023-024-03431-3.

Sialidosis type 1 in a Turkish family: a case report and review of literatures.

Kılıç M, İcil S, Sezer A, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2025; (38(2)):176-186 doi:10.1515/jpem-2024-0468.

Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes.

Jeffreys N, Khan RS, Kinsella J, et al.

Journal of inherited metabolic disease 2026; (49(1)):e70135 doi:10.1002/jimd.70135.

Sialidosis type I: How to alleviate disabling myoclonic seizures?-A multicenter analysis of eight cases and review of the literature.

Gburek-Augustat J, Lee IC, Rubino M, et al.

Epilepsia open 2026; (11(2)):577-591 doi:10.1002/epi4.70233.

Optical Coherence Tomography Reflectivity as a Diagnostic Tool and Neurological Biomarker in Sialidosis Type I.

Tew TB, Lin CH, Hsueh HW, et al.

Journal of inherited metabolic disease 2026; (49(3)):e70191 doi:10.1002/jimd.70191.