Research & Literature

Chemical chaperone treatment for galactosialidosis: Effect of NOEV on β-galactosidase activities in fibroblasts.

Hossain MA, Higaki K, Shinpo M, et al.

Brain & development 2016; (38(2)):175-80.

The supportive care needs of parents with a child with a rare disease: results of an online survey.

Pelentsov LJ, Fielder AL, Laws TA, Esterman AJ

BMC family practice 2016; (17()):88 doi:10.1186/s12875-016-0488-x.

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.

Mice with Catalytically Inactive Cathepsin A Display Neurobehavioral Alterations.

Calhan OY, Seyrantepe V

Behavioural neurology 2017; (2017()):4261873 doi:10.1155/2017/4261873.

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.

A Turkish case of galactosialidosis with a new homozygous mutation in CTSA gene.

Kartal A, Aydın K

Metabolic brain disease 2017; (32(4)):973-975 doi:10.1007/s11011-017-0042-0.

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.

Annunziata I, d'Azzo A

Expert opinion on orphan drugs 2017; (5(2)):131-141 doi:10.1080/21678707.2016.1266933.

[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis].

García Hernández L, Sierra Sirvent J, Gort Mas L, Coll Roseli MJ

Archivos argentinos de pediatria 2018; (116(1)):e88-e92 doi:10.5546/aap.2018.e88.

Sialidosis: A Review of Morphology and Molecular Biology of a Rare Pediatric Disorder.

Khan A, Sergi C

Diagnostics (Basel, Switzerland) 2018; (8(2)) doi:10.3390/diagnostics8020029.

Dental Management of a Young Child Affected by Galactosialidosis and a Gigantic Abdominal Growth.

Méndez-Salado Y, De Ávila-Rojas P, Pozos-Guillén A, et al.

Case reports in dentistry 2018; (2018()):2086157 doi:10.1155/2018/2086157.

Galactosialidosis in a Newborn with a Novel Mutation in the CTSA Gene Presenting with Transient Hyperparathyroidism.

E O, G T, T E, et al.

Balkan journal of medical genetics : BJMG 2017; (20(2)):95-98 doi:10.1515/bjmg-2017-0031.

Alone in a Crowd? Parents of Children with Rare Diseases' Experiences of Navigating the Healthcare System.

Baumbusch J, Mayer S, Sloan-Yip I

Journal of genetic counseling 2018; doi:10.1007/s10897-018-0294-9.

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.

Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis-A cross-sectional study.

Sláma T, Garbade SF, Kölker S, et al.

Journal of inherited metabolic disease 2019; (42(2)):295-302 doi:10.1002/jimd.12010.

A new heterozygous compound mutation in the CTSA gene in galactosialidosis.

Nakajima H, Ueno M, Adachi K, et al.

Human genome variation 2019; (6()):22 doi:10.1038/s41439-019-0054-x.

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.

Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Al-Kouatly HB, Felder L, Makhamreh MM, et al.

Prenatal diagnosis 2020; (40(6)):738-745 doi:10.1002/pd.5678.

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.

Laboratory Diagnosis of Lysosomal Diseases: Newborn Screening to Treatment.

Fuller M

The Clinical biochemist. Reviews 2020; (41(2)):53-66 doi:10.33176/AACB-19-00037.

Placental Findings in Lysosomal Storage Disease Diagnosis: A Case Report of Galactosialidosis.

Libbrecht S, Eyskens F, Declercq S, Colpaert C

Case reports in pathology 2020; (2020()):8181056 doi:10.1155/2020/8181056.

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.

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.

Galactosialidosis: preclinical enzyme replacement therapy in a mouse model of the disease, a proof of concept.

Cadaoas J, Hu H, Boyle G, et al.

Molecular therapy. Methods & clinical development 2021; (20()):191-203 doi:10.1016/j.omtm.2020.11.012.

Structure of the murine lysosomal multienzyme complex core.

Gorelik A, Illes K, Hasan SMN, et al.

Science advances 2021; (7(20)) doi:10.1126/sciadv.abf4155.

Inflammatory arthritis complicating galactosialidosis: a case report.

Verkuil F, Bosch AM, Struijs PAA, et al.

BMC rheumatology 2021; (5(1)):41 doi:10.1186/s41927-021-00208-0.

AAV-mediated gene therapy for galactosialidosis: A long-term safety and efficacy study.

Hu H, Mosca R, Gomero E, et al.

Molecular therapy. Methods & clinical development 2021; (23()):644-658 doi:10.1016/j.omtm.2021.10.007.

Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases.

Smits RM, Vissers E, Te Pas R, et al.

Orphanet journal of rare diseases 2022; (17(1)):153 doi:10.1186/s13023-022-02305-w.

Reversal of neuroinflammation in novel GS model mice by single i.c.v. administration of CHO-derived rhCTSA precursor protein.

Horii Y, Iniwa T, Onitsuka M, et al.

Molecular therapy. Methods & clinical development 2022; (25()):297-310 doi:10.1016/j.omtm.2022.04.001.

Clinical spectrum and outcome of nine patients with a novel genetic variant of galactosialidosis in the Kingdom of Bahrain.

Alsahlawi Z, Aljishi E, Kheyami A, et al.

JIMD reports 2022; (63(6)):614-620 doi:10.1002/jmd2.12330.

Psychosocial impact at the time of a rare disease diagnosis.

Benito-Lozano J, Arias-Merino G, Gómez-Martínez M, et al.

PloS one 2023; (18(7)):e0288875 doi:10.1371/journal.pone.0288875.

Ultra-rare ultra-care: Assessing the impact of caring for children with ultra rare diseases.

Domaradzki J, Walkowiak D

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2024; (48()):78-84 doi:10.1016/j.ejpn.2023.12.003.

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.

Infantile Galactosialidosis with Novel Mutation: An Early Presentation.

Sharma S, Gupta S, Mehta AP, Sidana P

Journal of pediatric genetics 2023; (12(4)):325-328 doi:10.1055/s-0041-1731776.

Galactosialidosis presenting as non-immune hydrops.

Bajpai S, Mandal K, Naranje K, Singh A

BMJ case reports 2024; (17(10)) doi:10.1136/bcr-2024-260906.

Galactosialidosis: A Report of Three Cases Diagnosed With a Founder Genetic Mutation in the Bahraini Population.

Alsahlawi Z, Alhadi ZJ, Abdulla EA, et al.

Cureus 2025; (17(1)):e77750 doi:10.7759/cureus.77750.

Novel CTSA Variant Identified in a Thai Family With Late-Infantile Galactosialidosis.

Ngiwsara L, Dhachpramuk D, Sawangareetrakul P, et al.

Annals of human genetics 2025; (89(2-3)):126-131 doi:10.1111/ahg.12595.

Juvenile/adult-type galactosialidosis with a homozygous CTSA variant without consanguinity.

Toki M, Tsunoda K, So T, et al.

Human genome variation 2025; (12(1)):20 doi:10.1038/s41439-025-00324-0.

Phenotypic Divergence in Siblings with the Same Genotype: Diffuse Dermal Melanocytosis in Infantile-Onset Galactosialidosis.

Gürbüz BB, Özalp Ö

Molecular syndromology 2026; (17(4)):409-416 doi:10.1159/000549013.

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.