Research & Literature

Neurocognition across the spectrum of mucopolysaccharidosis type I: Age, severity, and treatment.

Shapiro EG, Nestrasil I, Rudser K, et al.

Molecular genetics and metabolism 2015; (116(1-2)):61-8.

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.

Al-Sannaa NA, Bay L, Barbouth DS, et al.

Orphanet journal of rare diseases 2015; (10()):131 doi:10.1186/s13023-015-0344-4.

Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome.

Brazier A, Hasan R, Jenkins P, Hoschtitzky A

BMJ case reports 2015; (2015()).

Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I.

Troko J, Poonawala Y, Geberhiwot T, Martin B

JIMD reports 2016; (30()):1-5 doi:10.1007/8904_2016_527.

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

Langereis EJ, den Os MM, Breen C, et al.

The Journal of bone and joint surgery. American volume 2016; (98(5)):386-95 doi:10.2106/JBJS.O.00601.

Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I.

Jameson E, Jones S, Remmington T

The Cochrane database of systematic reviews 2016; (4()):CD009354 doi:10.1002/14651858.CD009354.pub4.

The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences.

Bruni S, Lavery C, Broomfield A

Molecular genetics and metabolism reports 2016; (8()):67-73 doi:10.1016/j.ymgmr.2016.07.006.

Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1.

Grosse SD, Lam WKK, Wiggins LD, Kemper AR

Genetics in medicine : official journal of the American College of Medical Genetics 2017; (19(9)):975-982 doi:10.1038/gim.2016.223.

Early disease progression of Hurler syndrome.

Kiely BT, Kohler JL, Coletti HY, et al.

Orphanet journal of rare diseases 2017; (12(1)):32 doi:10.1186/s13023-017-0583-7.

Transcranial pulsed ultrasound facilitates brain uptake of laronidase in enzyme replacement therapy for Mucopolysaccharidosis type I disease.

Hsu YH, Liu RS, Lin WL, et al.

Orphanet journal of rare diseases 2017; (12(1)):109 doi:10.1186/s13023-017-0649-6.

Epidemiology of mucopolysaccharidoses.

Khan SA, Peracha H, Ballhausen D, et al.

Molecular genetics and metabolism 2017; (121(3)):227-240 doi:10.1016/j.ymgme.2017.05.016.

Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature.

Makler V, Goldstein CL, Hoernschemeyer D, Tanaka T

Surgical neurology international 2017; (8()):80 doi:10.4103/sni.sni_463_16.

Open issues in Mucopolysaccharidosis type I-Hurler.

Parini R, Deodato F, Di Rocco M, et al.

Orphanet journal of rare diseases 2017; (12(1)):112 doi:10.1186/s13023-017-0662-9.

Characterization of the MPS I-H knock-in mouse reveals increased femoral biomechanical integrity with compromised material strength and altered bone geometry.

Oestreich AK, Garcia MR, Yao X, et al.

Molecular genetics and metabolism reports 2015; (5()):3-11 doi:10.1016/j.ymgmr.2015.08.004.

Residual glycosaminoglycan accumulation in mitral and aortic valves of a patient with attenuated MPS I (Scheie syndrome) after 6 years of enzyme replacement therapy: Implications for early diagnosis and therapy.

Sato Y, Fujiwara M, Kobayashi H, et al.

Molecular genetics and metabolism reports 2015; (5()):94-97 doi:10.1016/j.ymgmr.2015.10.014.

Carpal tunnel syndrome in mucopolysaccharidosis I: a registry-based cohort study.

Viskochil D, Muenzer J, Guffon N, et al.

Developmental medicine and child neurology 2017; (59(12)):1269-1275 doi:10.1111/dmcn.13545.

Markedly Elevated Intracranial Pressure Treated With Cranial Vault Expansion, Instead of CSF Shunting, in a Child With Hurler-Scheie Syndrome and Multiple Suture Craniosynostosis.

Ching JA, Troy JS, Ruas EJ, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2019; (56(3)):395-399 doi:10.1177/1055665618777906.

Patient iPSC-derived neural stem cells exhibit phenotypes in concordance with the clinical severity of mucopolysaccharidosis I.

Swaroop M, Brooks MJ, Gieser L, et al.

Human molecular genetics 2018; (27(20)):3612-3626 doi:10.1093/hmg/ddy259.

Newborn screening in mucopolysaccharidoses.

Donati MA, Pasquini E, Spada M, et al.

Italian journal of pediatrics 2018; (44(Suppl 2)):126 doi:10.1186/s13052-018-0552-3.

The Association Between Concomitant Ulnar Nerve Compression at the Elbow and Carpal Tunnel Syndrome.

Shulman B, Bekisz J, Lopez C, et al.

Hand (New York, N.Y.) 2020; (15(3)):335-340 doi:10.1177/1558944718813669.

Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family.

Gökay S, Kardaş F, Kendirci M, Sözeri B

The Turkish journal of pediatrics 2018; (60(3)):344-347.

Audiometric evaluation in individuals with mucopolysaccharidosis.

Silveira MRMD, Buriti AKL, Martins AM, et al.

Clinics (Sao Paulo, Brazil) 2018; (73()):e523 doi:10.6061/clinics/2018/e523.

Deep Anterior Lamellar Keratoplasty in a Case of Hurler-Scheie Syndrome Undergoing Enzyme Replacement Therapy.

Eah KS, Lee CM, Kim MJ

Cornea 2019; (38(3)):376-378 doi:10.1097/ICO.0000000000001840.

Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.

Yamazaki N, Kosuga M, Kida K, et al.

Brain & development 2019; (41(6)):546-550 doi:10.1016/j.braindev.2019.01.008.

Hurler-Scheie syndrome in Niger: a case series.

Assadeck H, Toudou Daouda M, Bako H, Hassane Djibo F

Journal of medical case reports 2019; (13(1)):102 doi:10.1186/s13256-019-2047-2.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, et al.

The Journal of pediatrics 2019; (211()):193-200.e2 doi:10.1016/j.jpeds.2019.04.027.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA, Giugliani R, Guffon N, et al.

Clinical genetics 2019; (96(4)):281-289 doi:10.1111/cge.13583.

Enzyme replacement therapy with laronidase (Aldurazyme®) for treating mucopolysaccharidosis type I.

Jameson E, Jones S, Remmington T

The Cochrane database of systematic reviews 2019; (6()):CD009354 doi:10.1002/14651858.CD009354.pub5.

Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation.

Koehne T, Müller-Stöver S, Köhn A, et al.

Sleep & breathing = Schlaf & Atmung 2019; (23(4)):1315-1321 doi:10.1007/s11325-019-01900-9.

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Zhou YA, Li P, Zhang Y, et al.

Molecular genetics & genomic medicine 2020; (8(1)):e1058 doi:10.1002/mgg3.1058.

Intrathecal enzyme replacement for cognitive decline in mucopolysaccharidosis type I, a randomized, open-label, controlled pilot study.

Chen AH, Harmatz P, Nestrasil I, et al.

Molecular genetics and metabolism 2020; (129(2)):80-90 doi:10.1016/j.ymgme.2019.11.007.

Progressive eye pathology in mucopolysaccharidosis type I mice and effects of enzyme replacement therapy.

Gonzalez EA, Visioli F, Pasqualim G, et al.

Clinical & experimental ophthalmology 2020; (48(3)):334-342 doi:10.1111/ceo.13713.

Cognitive Abilities of Dogs with Mucopolysaccharidosis I: Learning and Memory.

Provoost L, Siracusa C, Stefanovski D, et al.

Animals : an open access journal from MDPI 2020; (10(3)) doi:10.3390/ani10030397.

Implementation of an Affordable Method for MPS Diagnosis from Urine Screening to Enzymatic Confirmation: Results of a Pilot Study in Morocco.

Fdil N, Sabir ES, Ezoubeiri A, et al.

Clinical laboratory 2020; (66(3)) doi:10.7754/Clin.Lab.2019.190720.

Mucopolysaccharidosis Type I.

Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al.

Diagnostics (Basel, Switzerland) 2020; (10(3)) doi:10.3390/diagnostics10030161.

Intrastromal Gene Therapy Prevents and Reverses Advanced Corneal Clouding in a Canine Model of Mucopolysaccharidosis I.

Miyadera K, Conatser L, Llanga TA, et al.

Molecular therapy : the journal of the American Society of Gene Therapy 2020; (28(6)):1455-1463 doi:10.1016/j.ymthe.2020.04.004.

Neonatal combination therapy improves some of the clinical manifestations in the Mucopolysaccharidosis type I murine model.

Santi L, De Ponti G, Dina G, et al.

Molecular genetics and metabolism 2020; (130(3)):197-208 doi:10.1016/j.ymgme.2020.05.001.

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I.

Sugiura K, Kubo T, Ochi Y, et al.

Molecular genetics and metabolism reports 2020; (25()):100662 doi:10.1016/j.ymgmr.2020.100662.

Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.

Katja K, Inga V, Ramona L, et al.

Molecular genetics and metabolism reports 2020; (25()):100660 doi:10.1016/j.ymgmr.2020.100660.

Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I.

Giugliani R, Muschol N, Keenan HA, et al.

Archives of disease in childhood 2021; (106(7)):674-679 doi:10.1136/archdischild-2020-319040.

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.

Hampe CS, Wesley J, Lund TC, et al.

Biomolecules 2021; (11(2)) doi:10.3390/biom11020189.

[Median nerve compression in the carpal tunnel in children - a delayed diagnosis. About 20 clinical cases].

Andre E, Hamel A, Perrot P, Duteille F

Annales de chirurgie plastique et esthetique 2021; (66(4)):298-304 doi:10.1016/j.anplas.2021.04.003.

Long-term evolution of mucopolysaccharidosis type I in twins treated with enzyme replacement therapy plus hematopoietic stem cells transplantation.

Carbajal-Rodríguez LM, Pérez-García M, Rodríguez-Herrera R, et al.

Heliyon 2021; (7(8)):e07740 doi:10.1016/j.heliyon.2021.e07740.

MPS I: Early diagnosis, bone disease and treatment, where are we now?

Kingma SDK, Jonckheere AI

Journal of inherited metabolic disease 2021; (44(6)):1289-1310 doi:10.1002/jimd.12431.

Quantifying medical manifestations in Hurler syndrome with the infant physical symptom score: associations with long-term physical and adaptive outcomes.

Ahmed A, Rudser K, King KE, et al.

Molecular genetics and metabolism 2022; (136(1)):22-27 doi:10.1016/j.ymgme.2022.03.003.

Carpal tunnel syndrome in children: a case report.

Ali SM, Youssef BO, Senda B, et al.

The Pan African medical journal 2022; (41()):116 doi:10.11604/pamj.2022.41.116.33182.

Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.

Al Zaabi NN, Sirajum M, Al-Wawi MZ, Al Suwaiji M

Clinical case reports 2022; (10(5)):e05904 doi:10.1002/ccr3.5904.

18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.

Pjetraj D, Santoro L, Sgattoni C, et al.

American journal of medical genetics. Part A 2023; (191(2)):564-569 doi:10.1002/ajmg.a.63029.

Ocular Manifestations of Hurler-Scheie Syndrome: Recurrence of Host Disease in the Corneal Transplant.

Kölkedi Z, Csutak A, Szalai E

Molecular syndromology 2023; (14(1)):44-50 doi:10.1159/000525453.

Mucopolysaccharidosis Type I in Mexico: Case-Based Review.

Cantú-Reyna C, Vazquez-Cantu DL, Cruz-Camino H, et al.

Children (Basel, Switzerland) 2023; (10(4)) doi:10.3390/children10040642.

First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California.

Fillman T, Matteson J, Tang H, et al.

The Journal of pediatrics 2023; (263()):113644 doi:10.1016/j.jpeds.2023.113644.

Incidence of Bloodstream Infections after Hematopoietic Stem Cell Transplantation for Hurler Syndrome.

Dunseath C, O'Connor G, Mahulkar S, et al.

Transplantation and cellular therapy 2023; (29(11)):707.e1-707.e4 doi:10.1016/j.jtct.2023.08.010.

Challenges in Diagnosing and Managing Hurler Syndrome: A Case Report.

Achiatar LS, Hazoor HB, Adwani R, et al.

Cureus 2024; (16(8)):e67056 doi:10.7759/cureus.67056.

Intracranial tumor in a patient with mucopolysaccharidosis type 1 (Scheie syndrome): An extremely rare combination.

Kukreja S, Soomro AI, Lohana S, et al.

Heliyon 2024; (10(19)):e38652 doi:10.1016/j.heliyon.2024.e38652.

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I.

Grady LO, Zoltick ES, Zouk H, et al.

American journal of medical genetics. Part A 2025; (197(4)):e63940 doi:10.1002/ajmg.a.63940.

Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.

Boujida N, Jabour S, Elaitari K, et al.

Radiology case reports 2025; (20(12)):5795-5799 doi:10.1016/j.radcr.2025.08.011.

Safety and efficacy of laronidase in Chinese patients with mucopolysaccharidosis type I: a phase IV, single-arm, open-label, multicenter study.

Liang Y, Yang YL, Zou CC, et al.

Orphanet journal of rare diseases 2025; (20(1)):547 doi:10.1186/s13023-025-04056-w.

Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome-A Case Report.

Alharthi AS, Hassan CI, Alsharkawy AA, et al.

Neurology international 2025; (17(12)) doi:10.3390/neurolint17120205.

Carpal tunnel syndrome in mucopolysaccharidosis type I: clinical, surgical and histopathological findings.

van Binsbergen BAW, van Dongen JA, Vriend L, et al.

The Journal of hand surgery, European volume 2026; 17531934261416366 doi:10.1177/17531934261416366.