Research & Literature

Non-invasive pulmonary function test on Morquio patients.

Kubaski F, Tomatsu S, Patel P, et al.

Molecular genetics and metabolism 2015; (115(4)):186-92.

[Morquio disease (Mucopolysaccharidosis type IV-A): clinical aspects, diagnosis and new treatment with enzyme replacement therapy].

Politei J, Schenone AB, Guelbert N, et al.

Archivos argentinos de pediatria 2015; (113(4)):359-64.

Mucopolysaccharidosis: radiographic findings in a series of 16 cases.

de Santana Sarmento DJ, de Carvalho SH, Melo SL, et al.

Oral surgery, oral medicine, oral pathology and oral radiology 2015; (120(6)):e240-6.

[Mucopolysaccharidosis: clinical features, diagnosis and management].

Suarez-Guerrero JL, Gómez Higuera PJ, Arias Flórez JS, Contreras-García GA

Revista chilena de pediatria 2016; (87(4)):295-304.

Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.

Tomatsu S, Sawamoto K, Shimada T, et al.

Expert opinion on orphan drugs 2015; (3(11)):1279-1290 doi:10.1517/21678707.2015.1086640.

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome).

Al Kaissi A, Kenis V, Melchenko E, et al.

African journal of paediatric surgery : AJPS 2016; (13(2)):88-94 doi:10.4103/0189-6725.182563.

Role of elosulfase alfa in mucopolysaccharidosis IVA.

Regier DS, Tanpaiboon P

The application of clinical genetics 2016; (9()):67-74 doi:10.2147/TACG.S69080.

Long-term endurance and safety of elosulfase alfa enzyme replacement therapy in patients with Morquio A syndrome.

Hendriksz CJ, Parini R, AlSayed MD, et al.

Molecular genetics and metabolism 2016; (119(1-2)):131-43.

Impact of long-term elosulfase alfa treatment on respiratory function in patients with Morquio A syndrome.

Hendriksz CJ, Berger KI, Parini R, et al.

Journal of inherited metabolic disease 2016; (39(6)):839-847 doi:10.1007/s10545-016-9973-6.

Mucopolysaccharidosis IVA and glycosaminoglycans.

Khan S, Alméciga-Díaz CJ, Sawamoto K, et al.

Molecular genetics and metabolism 2017; (120(1-2)):78-95 doi:10.1016/j.ymgme.2016.11.007.

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Hughes D, Giugliani R, Guffon N, et al.

Orphanet journal of rare diseases 2017; (12(1)):98 doi:10.1186/s13023-017-0634-0.

Impact of long-term elosulfase alfa on activities of daily living in patients with Morquio A syndrome in an open-label, multi-center, phase 3 extension study.

Hendriksz CJ, Parini R, AlSayed MD, et al.

Molecular genetics and metabolism 2018; (123(2)):127-134 doi:10.1016/j.ymgme.2017.11.015.

Voice alterations in patients with Morquio A syndrome.

Szklanny K, Gubrynowicz R, Tylki-Szymańska A

Journal of applied genetics 2018; (59(1)):73-80 doi:10.1007/s13353-017-0421-6.

Widespread Vasculopathy in a Patient with Morquio A Syndrome.

Powell AW, Taylor MD, Burrow TA, et al.

Texas Heart Institute journal 2017; (44(6)):420-423 doi:10.14503/THIJ-16-6121.

Neurophysiology of hearing in patients with mucopolysaccharidosis type IV.

Nagao K, Morlet T, Haley E, et al.

Molecular genetics and metabolism 2018; (123(4)):472-478 doi:10.1016/j.ymgme.2018.02.002.

Morquio Syndrome: A Case Report.

Ramphul K, Mejias SG, Ramphul-Sicharam Y

Cureus 2018; (10(3)):e2270 doi:10.7759/cureus.2270.

Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA.

Peracha H, Sawamoto K, Averill L, et al.

Molecular genetics and metabolism 2018; (125(1-2)):18-37 doi:10.1016/j.ymgme.2018.05.004.

Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.

Bleier M, Yuskiv N, Priest T, et al.

Molecular genetics and metabolism reports 2018; (16()):57-63 doi:10.1016/j.ymgmr.2018.06.006.

Non-invasive pulmonary function test on Morquio patients.

Doherty C, Kubaski F, Tomatsu S, Shaffer TH

Journal of rare diseases research & treatment 2017; (2(2)):55-62.

Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.

Przybilla MJ, Ou L, Tăbăran AF, et al.

Molecular genetics and metabolism 2019; (126(2)):139-150 doi:10.1016/j.ymgme.2018.11.002.

Novel data on growth phenotype and causative genotypes in 29 patients with Morquio (Morquio-Brailsford) syndrome from Central-Eastern Europe.

Jezela-Stanek A, Różdżyńska-Świątkowska A, Kulpanovich A, et al.

Journal of applied genetics 2019; (60(2)):163-174 doi:10.1007/s13353-019-00491-1.

Coordinated approach to spinal and tracheal reconstruction in a patient with morquio syndrome.

Kiessling P, Stans AA, Dearani JA, et al.

International journal of pediatric otorhinolaryngology 2020; (128()):109721 doi:10.1016/j.ijporl.2019.109721.

A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.

Nakamura-Utsunomiya A, Nakamae T, Kagawa R, et al.

International journal of molecular sciences 2020; (21(3)) doi:10.3390/ijms21030989.

Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management.

Sawamoto K, Álvarez González JV, Piechnik M, et al.

International journal of molecular sciences 2020; (21(4)) doi:10.3390/ijms21041517.

Atlantoaxial instability treated with free-hand C1-C2 fusion in a child with Morquio syndrome.

Moon E, Lee S, Chong S, Park JH

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020; (36(8)):1785-1789 doi:10.1007/s00381-020-04561-2.

Adult Morquio syndrome requiring occipito-thoracic fusion.

Okumura R, Hasegawa K, Tsuge S, et al.

Journal of orthopaedic surgery (Hong Kong) 2020; (28(2)):2309499020918424 doi:10.1177/2309499020918424.

Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis.

Murgasova L, Jurovcik M, Jesina P, et al.

International journal of pediatric otorhinolaryngology 2020; (135()):110137 doi:10.1016/j.ijporl.2020.110137.

Chondroitin sulfate disaccharide is a specific and sensitive biomarker for mucopolysaccharidosis type IVA.

Chin SJ, Saville JT, McDermott BK, et al.

JIMD reports 2020; (55(1)):68-74 doi:10.1002/jmd2.12132.

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study.

Moisan L, Iannuzzi D, Maranda B, et al.

Orphanet journal of rare diseases 2020; (15(1)):270 doi:10.1186/s13023-020-01545-y.

Clinical outcomes in elderly patients with Morquio a syndrome receiving enzyme replacement therapy - experience in a Colombian center.

Erazo-Narváez AF, Muñoz-Vidal JM, Rodríguez-Vélez GH, Acosta-Aragón MA

Molecular genetics and metabolism reports 2020; (25()):100679 doi:10.1016/j.ymgmr.2020.100679.

Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy.

Lin HY, Chen MR, Lee CL, et al.

Diagnostics (Basel, Switzerland) 2020; (11(1)) doi:10.3390/diagnostics11010016.

Characterization of New Proteomic Biomarker Candidates in Mucopolysaccharidosis Type IVA.

Álvarez VJ, Bravo SB, Chantada-Vazquez MP, et al.

International journal of molecular sciences 2020; (22(1)) doi:10.3390/ijms22010226.

Morquio Syndrome Presenting with Dural Band Pathology: A Case Report.

Gupta S, Sengar K, Subramanian A, Satyarthee G

Journal of laboratory physicians 2020; (12(4)):285-288 doi:10.1055/s-0040-1722548.

Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.

Cleary M, Davison J, Gould R, et al.

Orphanet journal of rare diseases 2021; (16(1)):38 doi:10.1186/s13023-021-01675-x.

Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI.

Ademhan Tural D, Emiralioglu N, Dogru D, et al.

American journal of medical genetics. Part A 2021; (185(8)):2306-2314 doi:10.1002/ajmg.a.62229.

Total Hip Arthroplasty in a Patient with Mucopolysaccharidosis Type IVB.

van den Eeden YNT, Unter Ecker N, Kleinertz H, et al.

Case reports in orthopedics 2021; (2021()):5584408 doi:10.1155/2021/5584408.

Evaluation of Gait Pattern and Lower Extremity Kinematics of Children with Morquio Syndrome (MPS IV).

Salazar-Torres JJ, Church C, Shields T, et al.

Diagnostics (Basel, Switzerland) 2021; (11(8)) doi:10.3390/diagnostics11081350.

Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt.

Fateen E, Abdallah ZY, Nazim WS, et al.

Heliyon 2021; (7(8)):e07830 doi:10.1016/j.heliyon.2021.e07830.

Molecular characterization of mucopolysaccharidosis type IVA patients in the Andean region of Colombia.

Pachajoa H, Acosta MA, Alméciga-Díaz CJ, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(3)):388-395 doi:10.1002/ajmg.c.31936.

Anesthetic Concerns of Children With Skeletal Dysplasia.

Theroux MC, Campbell JW

Neurosurgery clinics of North America 2022; (33(1)):37-47 doi:10.1016/j.nec.2021.09.004.

Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.

Yi M, Wang Y, Gao X, et al.

Journal of inherited metabolic disease 2022; (45(3)):593-604 doi:10.1002/jimd.12491.

Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA.

Lee SH, Kim HY, Cho TJ, et al.

Molecular genetics and metabolism reports 2022; (31()):100869 doi:10.1016/j.ymgmr.2022.100869.

Efficacy of Intravenous Elosulfase Alfa for Mucopolysaccharidosis Type IVA: A Systematic Review and Meta-Analysis.

Lee CL, Chuang CK, Syu YM, et al.

Journal of personalized medicine 2022; (12(8)) doi:10.3390/jpm12081338.

How did intraoperative neuromonitorization prevent tetraplegia?

Sahin MC, Ipek EM, Zinnuroglu M, Borcek AO

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2023; (39(5)):1323-1328 doi:10.1007/s00381-022-05748-5.

CORONAL PLANE GROWTH MODULATION FOR GENU VALGUM IN SKELETAL DYSPLASIA.

Sağlam Y, Demirel M, Yildirim AM, et al.

Acta ortopedica brasileira 2022; (30(6)):e249113 doi:10.1590/1413-785220223006e249113.

A pictorial review of the radiographic skeletal findings in Morquio syndrome (mucopolysaccharidosis type IV).

Padash S, Obaid H, Henderson RDE, et al.

Pediatric radiology 2023; (53(5)):971-983 doi:10.1007/s00247-022-05585-3.

Dental Considerations for the Treatment of Patients with Morquio Syndrome.

Vinod A, Raj SN, Anand A, Shirly AD

International journal of clinical pediatric dentistry 2022; (15(6)):707-710 doi:10.5005/jp-journals-10005-2451.

Tracheal Resection for Critical Airway Obstruction in Morquio A Syndrome.

Frauenfelder C, Maughan E, Kenth J, et al.

Case reports in pediatrics 2023; (2023()):7976780 doi:10.1155/2023/7976780.

A Novel, Possibly Pathogenic, COL4A1 Gene Variant (c.3698G>A) in a Family With Childhood Epilepsy and Leukoencephalopathy.

Gaini R, Denniss J, Lengel A, Lackey EA

Cureus 2023; (15(11)):e48553 doi:10.7759/cureus.48553.

Anesthetic and Airway Management in a Pediatric Patient with Morquio Syndrome: A Case Report.

Garcia YKG, Reyes CRB

Acta medica Philippina 2024; (58(9)):35-38 doi:10.47895/amp.v58i9.8284.

A rare partnership: patient community and industry collaboration to shape the impact of real-world evidence on the rare disease ecosystem.

Klein TL, Bender J, Bolton S, et al.

Orphanet journal of rare diseases 2024; (19(1)):262 doi:10.1186/s13023-024-03262-2.

Endodontic management of taurodontism in a patient with Morquio syndrome: Case report of a 16-year-old girl.

Mirza MB

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(6)):1581-1588 doi:10.1111/scd.13047.

Hearing loss in patients with Morquio A syndrome: A scoping review.

Diaz-Ordoñez L, Duque-Cordoba PA, Silva-Cuero K, et al.

Medicine 2025; (104(2)):e41128 doi:10.1097/MD.0000000000041128.

A case report of procedural management of an adult with morquio syndrome undergoing transcatheter aortic valve implantation.

Oneto A, Sakhuja R, Osho A, et al.

European heart journal. Case reports 2025; (9(3)):ytaf117 doi:10.1093/ehjcr/ytaf117.

Clinical and genetic spectrums of Mucopolysaccharidosis type IV in Duhok city, Kurdistan region, Iraq.

Haleem AA

Cellular and molecular biology (Noisy-le-Grand, France) 2025; (71(3)):42-47 doi:10.14715/cmb/2025.71.3.5.

Retro-odontoid mass resolution analysis and timing following posterior cervical spinal fixation: 16-year paediatric neurosurgery experience in a single UK institute.

Elmaghraby M, Afshari FT, Cardoso RM, et al.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2025; (41(1)):171 doi:10.1007/s00381-025-06804-6.

Clinically relevant pseudoexons of the GALNS gene and their antisense-based correction.

Bychkov I, Shchukina E, Zakharova E

Molecular medicine (Cambridge, Mass.) 2025; (31(1)):196 doi:10.1186/s10020-025-01243-0.

Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.

Galkina VA, Vasilyeva TA, Tebieva IS, et al.

Genes 2025; (16(5)) doi:10.3390/genes16050475.

Expanding the Spectrum: A Rare Case of Morquio Syndrome With Bronchial Asthma and Seizure Disorder.

Bastola B, Dahal S, Acharya RR, et al.

Clinical case reports 2025; (13(10)):e71123 doi:10.1002/ccr3.71123.

Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).

Stepien KM, Burton BK, Bober MB, et al.

Orphanet journal of rare diseases 2025; (20(1)):548 doi:10.1186/s13023-025-04064-w.

Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report.

Bharadwaj AD, Markowitz SD, Zertan C, Zimmerman AM

A&A practice 2025; (19(11)):e02072 doi:10.1213/XAA.0000000000002072.

Early screening for respiratory and cardiac complications in pediatric mucopolysaccharidosis IVA: Insights from a case.

Shu H, Shang X, Sun Y, et al.

Intractable & rare diseases research 2025; (14(4)):303-305 doi:10.5582/irdr.2025.01053.

TAVI-in-TAVI in a patient with morquio syndrome: a case report.

Chin DXL, De Michele G, Cristofani D, De Felice F

European heart journal. Case reports 2026; (10(1)):ytaf662 doi:10.1093/ehjcr/ytaf662.