Síndrome de Hurler

NCT00418821 · A Study of the Effect of Aldurazyme® (Laronidase) Treatment …Encerrado

PHASE4

NCT03513328 · Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell …Concluído

NCT01372228 · Phase I/II Pilot Study of Mixed Chimerism to Treat Inherited…Encerrado

NCT04284254 · MT2018-18: Sleeping Beauty Transposon-Engineered Plasmablast…Cancelado

NCT03639844 · BPX-501 T Cells Infused Post Stem Cell Transplant in Pediatr…NO_LONGER_AVAILABLE

NCT01173016 · Administration of IV Laronidase Post Bone Marrow Transplant …Concluído

PHASE1

NCT01917708 · Bone Marrow Transplant With Abatacept for Non-Malignant Dise…Concluído

PHASE1

NCT01873911 · Neurobehavioral Phenotypes in MPS IIIConcluído

NCT00176891 · Stem Cell Transplant w/Laronidase for HurlerConcluído

PHASE2

NCT00286689 · Effects of Growth Hormone in Chronically Ill ChildrenCancelado

NA

NCT00638547 · Intrathecal Enzyme Replacement for Hurler SyndromeConcluído

PHASE1

NCT01572636 · Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With H…Encerrado

Ver todos no ClinicalTrials.gov

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Publicações mais relevantes

📖Melhor nível de evidência: Revisão

Timeline de publicações

226 papers (10 anos)

#1

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Frontiers in pediatrics2026

Mucopolysaccharidosis (MPS) represents a group of rare inherited metabolic disorders characterized by abnormal accumulation of glycosaminoglycans (GAGs) due to deficiencies of lysosomal enzymes. Mucopolysaccharidosis type I (MPS I) is caused by biallelic pathogenic variants in the IDUA gene and is inherited in an autosomal recessive pattern. The IDUA gene is located on chromosome 4p16.3 and encodes the lysosomal enzyme α-L-iduronidase, which plays a critical role in the degradation of GAGs, particularly dermatan sulfate and heparan sulfate. Reduced or absent IDUA enzymatic activity leads to the progressive accumulation of undegraded substrates within lysosomes, resulting in multisystem organ involvement. Based on clinical severity, MPS I is traditionally classified into three phenotypic subtypes: the severe form (Hurler syndrome), the intermediate form (Hurler-Scheie syndrome), and the attenuated form (Scheie syndrome, MPS I-S). This report describes a 13-year-old female patient in whom compound heterozygous pathogenic variants in the IDUA gene were identified by genetic testing, and whose clinical manifestations were consistent with the MPS I-S. In addition to typical skeletal and joint abnormalities, the patient also presented with uterine developmental abnormality. Currently, there is no definitive evidence supporting a direct causal relationship between MPS I and uterine developmental abnormalities; however, this case suggests a potential association between MPS I and reproductive system developmental abnormalities. This case may help further expand the phenotypic spectrum of MPS I and enhance clinical awareness of its multisystem involvement.

#2

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.

Neurology international2026 Feb 11

Background/Objectives: To date, few studies have reported the use of neurophysiological testing to assess the long-term progression of functional changes in median and ulnar nerve conduction in children and adolescents with mucopolysaccharidosis (MPS). This case series study aimed to perform an electroneurographic (ENG) assessment of the median and ulnar nerves in three young patients with MPS treated with enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT) over a five-year observation period. Methods: Bilateral electroneurography of the motor and sensory fibers in the median and ulnar nerves, recording compound muscle action potential (CMAP) and sensory nerve action potential (SNAP), was performed twice in 5-, 7-, and 19-year-old males at two time points: before and five years after the application of ERT and HSCT. Results: In three MPS patients with Hurler or Hunter syndrome, ENG studies similarly demonstrated decreased amplitudes and prolonged distal latencies in their CMAP recordings, confirming the bilateral progression of axonal degeneration and demyelinating changes in the distal parts of the median nerves. The SNAP recordings revealed more severe degenerative processes of similar types in the sensory fibers of the median nerves. Nerve conduction studies in the ulnar nerve fibers bilaterally revealed analogous pathologies, but with a lesser degree of progression. Conclusions: This study confirms the progression of axonal degeneration and demyelinating changes in the distal parts of the median nerves, which were associated with decreased amplitudes and prolonged distal latencies in the CMAP recordings of the MPS patients. More expressed degeneration processes of a similar type were found in the sensory fibers of the median nerves. Ulnar nerve pathologies of neural conduction are less advanced in patients with Hurler and Hunter syndromes. It seems advisable to implement neurophysiological diagnostics as soon as possible to specify surgical or conservative therapy, which is crucial for maintaining hand function in the case of progressive peripheral neuropathies in patients with MPS. The timing of the treatment and the patient's age may be factors influencing the effectiveness of treatment.

#3

Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.

Journal of inherited metabolic disease2026 Jan

Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease caused by mutations in the IDUA gene, resulting in decreased activity of the lysosomal enzyme α-l-iduronidase (IDUA) and consequent accumulation of glycosaminoglycans in the lysosomes. There are more than 300 disease-causing variants reported in the IDUA gene, and the mutational profile varies considerably worldwide. In this study, we performed molecular analysis on 119 MPS I patients, representing the largest Brazilian cohort studied so far. Forty-seven different mutations were identified in our sample, and 13 of them are newly described: c.48delG, c.78delC, c.159-23_159-1del23, p.Gln125Ter, p.Trp175Ter, c.590-6ins4G, c.763delC, c.973-1G>A, p.Asp349Glu, p.Asn350Lys, p.Lys384Asn, c.1403-12_1403-4del9, and p.Lys546Ter. In silico analysis of novel variants suggests they are possibly pathogenic, supporting previous biochemical and clinical diagnoses. Among recurrent mutations, p.Trp402Ter and p.Pro533Arg are the most frequent in Brazil, found in 42.4% and 16% of the alleles, respectively. These results reveal the great allelic heterogeneity of IDUA variants in Brazilian patients. Unraveling the genetic profile of MPS I patients may improve the diagnosis and management of this rare disease.

#4

Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy2026 Jan 07

Patients with mucopolysaccharidosis type I Hurler (MPSIH) experience multisystem clinical manifestations, which are only partially addressed by allogeneic hematopoietic stem cell transplantation (allo-HSCT). This study evaluated outcomes from a lentiviral vector-mediated hematopoietic stem and progenitor cell-gene therapy (HSPC-GT) trial (NCT03488394) in eight MPSIH patients followed up to 4 years post-treatment. Key findings included corneal clouding, hearing loss (HL), carpal tunnel syndrome (CTS), and cardiac evaluations. A retrospective comparison with an external cohort of nine MPSIH patients undergoing allo-HSCT was performed. All patients are alive at last follow-up, show stable engraftment without graft failure, insertional oncogenesis, or immune responses to the transgene. Notably, at last follow-up 3/8 HSPC-GT patients experienced corneal clouding resolution, while all allo-HSCT patients maintained moderate corneal clouding; 4/8 HSPC-GT patients showed normal hearing function at last follow-up due to improvement (n = 3) or stabilization (n = 1); 7/9 allo-HSCT patients had mild or moderate HL at baseline, while 2/9 showed moderate HL at last follow-up. No HSPC-GT patients required surgery for CTS developed after HSPC-GT, while 7/9 patients needed such surgery after allo-HSCT. No HSPC-GT patients developed severe cardiomyopathy or valvular disease, while in the HSCT cohort 4/9 patients experienced progression of valvular insufficiency although not requiring valve replacement. Our results indicate a favorable effect of HSPC-GT on MPSIH multisystemic manifestations up to 4 years after treatment; long-term, prospective comparative studies are warranted for definitive conclusions.

#5

Specific and efficient RNA A-to-I editing through cleavage of an ADAR inhibitor.

Nature biotechnology2026 Feb

RNA editing can be a promising therapeutic approach. However, ectopic expression of RNA editing enzymes has been shown to trigger off-target editing. Here we identified adenosine deaminase acting on RNA (ADAR) inhibitors (ADIs) that suppress the activity of the fused ADAR2 deamination domain (ADAR2DD). Using these specific ADIs, we develop an RNA transformer adenosine base editor (RtABE) with high specificity. Fusing ADI to ADAR2DD, RtABE remains inactive until it binds to its target site. After binding to the target site, ADI is cleaved from ADAR2DD, and RtABE becomes active. RtABE can induce efficient editing in broad sequence contexts, including UAN, AAN, CAN and GAN. Using an adeno-associated virus for delivery of RtABE enables therapeutic RNA correction and restoration of α-L-iduronidase activity in Hurler syndrome mice with no substantial off-target editing. RtABE is a specific and efficient RNA editing system with a broad scope that may be a better alternative to existing RNA editing tools.

Publicações recentes

First-in-human intracisternal dosing of RGX-111 in severe MPS I is well-tolerated and generates sustained neurodevelopment without HSCT.

Mol Ther2026 Apr 10

Cerebrospinal fluid heparan sulfate as a biomarker for neuronopathic mucopolysaccharidoses: Rationale and regulatory challenges.

📖 Revisão

Mol Genet Metab2026 Mar 31

Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I Diagnosis.

Int J Neonatal Screen2026 Mar 3

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Front Pediatr2026

Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.

Dis Model Mech2026 Feb 1

Ver todas no PubMed

📚 EuropePMC277 artigos no totalmostrando 198

Case Report: Compound heterozygous mutations in the IDUA gene causing mucopolysaccharidosis type I with uterine developmental abnormality.

Frontiers in pediatrics

Disease models & mechanisms

Development and characterization of a model of mucopolysaccharidosis type IVA for evaluating therapies targeting bone disease.

Neurophysiological Characteristics of Upper Extremity Neuropathy in Three Young Patients with Mucopolysaccharidosis Type I and II in a Five-Year Observation-A Case Series Study.

Neurology international

Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.

Genetic Modeling of Lysosomal Storage Disorders (LSDs) in the Brain-Midgut Axis of Drosophila melanogaster During Aging.

Cells

Expert opinion on biological therapy

From trial to transformation: insights into hematopoietic stem cell-gene therapy for Hurler syndrome.

Mucopolysaccharidoses: A biochemical study under limited resources.

Clinical outcomes of exclusive enzyme therapy (laronidase) in a cohort of patients with mucopolysaccharidosis type I.

Case reports in ophthalmological medicine

Bilateral Foveal Cysts in Mucopolysaccharidosis Type I (Hurler Syndrome): Response to Acetazolamide With Insights From Multimodal Retinal Imaging and Electrophysiology.

Reclassifying IDUA c.250G>A (p.Gly84Ser): Evidence for a Possible Pseudodeficiency Allele.

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Nature

Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a Recurrent IDUA Allele in Colombia.

Fatal EBV-Associated Posttransplant Lymphoproliferative Disease and Secondary Hemophagocytic Lymphohistiocytosis in a Pediatric Patient With Hurler Syndrome Following Hematopoietic Cell Transplantation: A Case Report and Review of the Literature.

Pediatric blood & cancer

The Journal of hand surgery

Effect of Early Hematopoietic Stem Cell Transplantation on Carpal Tunnel Syndrome Surgery in Patients With Hurler Syndrome.

Journal of pediatric orthopedics

Cervicothoracic Kyphosis and Spinal Cord Compression in Hurler Syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy

Non-neurological, non-skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy (OTL-203) for Hurler syndrome.

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

Radiology case reports

Journal of children's orthopaedics

Ultrasonographic hip morphology in mucopolysaccharidosis type I Hurler after hematopoietic stem cell gene therapy.

Imaging hallmarks of mucopolysaccharidosis in a young Ethiopian boy: A case report.

Radiology case reports

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Neurologic outcomes in patients with skeletal dysplasias undergoing cervical fusion and occipitocervical fusion.

Pharmaceuticals (Basel, Switzerland)

Prognostic Modeling of Deleterious IDUA Mutations L238Q and P385R in Hurler Syndrome Through Molecular Dynamics Simulations.

Journal of cardiovascular development and disease

Mitral Annular Calcification, a Not So Marginal and Relatively Benign Finding as Many of Us Think: A Review.

Long-Term Outcomes of Hematopoietic Stem Cell Transplantation in Mucopolysaccharidoses Patients Without Radiation.

Clinical transplantation

An engineered U7 small nuclear RNA scaffold greatly increases ADAR-mediated programmable RNA base editing.

Nature communications

Anaesthesia Considerations for an Adult with Hurler Syndrome.

Irish medical journal

Journal of neurosurgery. Pediatrics

Longitudinal clinical and imaging analysis of hydrocephalus in a single-center study in 57 patients with mucopolysaccharidosis type IH (Hurler syndrome).

Giant cytoplasmic inclusions (Alder-Reilly bodies) in Hurler syndrome (mucopolysaccharidosis type 1H).

Blood

Specific and efficient RNA A-to-I editing through cleavage of an ADAR inhibitor.

Transplantation and cellular therapy

Bodyweight and Absolute Lymphocyte Count-Based Dosing of Rabbit Anti-thymocyte Globulin Results in Early CD4+ Immune Reconstitution in Patients with Inborn Errors of Metabolism Undergoing Umbilical Cord Blood Transplantation.

Mucopolysaccharidoses types I and IIIA: Diagnosis and identification of novel polymorphisms associated with common mutations in Moroccan patients.

Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I.

Newborn Screening for Hurler Syndrome Facilitates Early Transplant and Good Outcomes.

Pediatric neurology

Molecular therapy : the journal of the American Society of Gene Therapy

Engineering memory T cells as a platform for long-term enzyme replacement therapy in lysosomal storage disorders.

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

Cureus

Prevalence and natural history of gibbus deformity in patients with Hurler syndrome.

Neuroradiology

Macroglossia in endocrine and metabolic disorders: current evidence, perspectives and challenges.

Minerva endocrinology

Programmable DNA pyrimidine base editing via engineered uracil-DNA glycosylase.

Nature communications

International Society for Cell & Gene Therapy Stem Cell Engineering Committee report on the current state of hematopoietic stem and progenitor cell-based genomic therapies and the challenges faced.

Cytotherapy

Therapeutic Nonsense Suppression Modalities: From Small Molecules to Nucleic Acid-Based Approaches.

Biomedicines

Successful treatment of corneal hypertrophic scar in Hurler syndrome.

Clinical case reports

Science translational medicine

Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome.

Journal of neurosurgery. Pediatrics

Natural history of craniovertebral abnormalities in a single-center study in 54 patients with Hurler syndrome.

Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells.

JCI insight

Near-cognate tRNAs increase the efficiency and precision of pseudouridine-mediated readthrough of premature termination codons.

Journal of orthopaedic research : official publication of the Orthopaedic Research Society

Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I.

Annals of medicine and surgery (2012)

Mucopolysaccharidosis type I Hurler-Scheie syndrome: a case report.

Children (Basel, Switzerland)

Extensive and Persistent Dermal Melanocytosis in a Male Carrier of Mucopolysaccharidosis Type IIIC (Sanfilippo Syndrome): A Case Report.

Chemical & pharmaceutical bulletin

Discovery of Novel Chromenopyridine Derivatives as Readthrough-Inducing Drugs.

Utilizing AAV-mediated LEAPER 2.0 for programmable RNA editing in non-human primates and nonsense mutation correction in humanized Hurler syndrome mice.

Genome biology

Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.

Cardiology in the young

Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy.

Annals of neurology

Chemical & pharmaceutical bulletin

Synthesis and Evaluation of Novel Triaryl Derivatives with Readthrough-Inducing Activity.

Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control.

Cell reports

Hepatic adenoma in a 7-year-old girl: a case report and literature review.

BMC pediatrics

Transplantation and cellular therapy

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

Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.

The Journal of pediatrics

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

Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice.

AJNR. American journal of neuroradiology

Posterior Fossa Horns in Hurler Syndrome: Prevalence and Regression.

Hurler Syndrome (Mucopolysaccharidosis Type 1): A Case Report.

Cureus

Increased pituitary volumes in patients with Sanfilippo syndrome (mucopolysaccharidosis type 3, MPS III).

Neuroradiology

Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).

In vivo adenine base editing corrects newborn murine model of Hurler syndrome.

Molecular biomedicine

Journal of anaesthesiology, clinical pharmacology

C-MAC® pediatric D-blade for intubation in a child with Hurler syndrome.

Hurler Syndrome: Orofacial Clinical Findings.

Cureus

AJNR. American journal of neuroradiology

Dilated Optic Nerve Sheath in Mucopolysaccharidosis I: Common and Not Necessarily High Intracranial Pressure.

American journal of medical genetics. Part A

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

Biochemical and biophysical research communications

Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.

Comparison of growth dynamics in different types of MPS: an attempt to explain the causes.

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.

Genes

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.

New Indications for Hematopoietic Stem Cell Gene Therapy in Lysosomal Storage Disorders.

Frontiers in oncology

Endocrine, metabolic & immune disorders drug targets

Bone Remodeling in an Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy.

Molecular therapy. Methods & clinical development

Liver-directed gene therapy corrects neurologic disease in a murine model of mucopolysaccharidosis type I-Hurler.

Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?

Blood advances

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

Engineered circular ADAR-recruiting RNAs increase the efficiency and fidelity of RNA editing in vitro and in vivo.

Efficient in vitro and in vivo RNA editing via recruitment of endogenous ADARs using circular guide RNAs.

The journal of gene medicine

Brain and visceral gene editing of mucopolysaccharidosis I mice by nasal delivery of the CRISPR/Cas9 system.

Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes.

Cells

Annals of Indian Academy of Neurology

Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.

Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego

Damage of the cardiovascular system in lysosomal storage disease - mucopolysaccharidosis.

The New England journal of medicine

The Beginning of the End of Allogeneic Transplantation for Hurler Syndrome?

The New England journal of medicine

Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome.

Effects of lithium administration on vertebral bone disease in mucopolysaccharidosis I dogs.

Bone

Bone marrow transplantation

B-cell depletion abrogates immune mediated cytopenia and rejection of cord blood transplantation in Hurler syndrome.

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

Heliyon

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease.

Nature communications

GMS Interdisciplinary plastic and reconstructive surgery DGPW

Trigger finger in children with hurler syndrome - distribution pattern and treatment options.

Surrogate Cerebrospinal Fluid Biomarkers for Assessing the Efficacy of Gene Therapy in Hurler Syndrome.

Frontiers in neurology

American journal of ophthalmology

Mucopolysaccharidosis Type I-Associated Corneal Disease: A Clinicopathologic Study.

American journal of medical genetics. Part C, Seminars in medical genetics

Rejecting Gargoylism: Reflections on the term and its relationship to Hurler syndrome.

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

Biomolecules

Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).

[Infantile arterial hypertension: A diagnostic challenge in paediatrics].

Anales de pediatria

Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI.

Multimodal imaging of Hurler syndrome-related keratopathy treated with deep anterior lamellar keratoplasty.

BMC ophthalmology

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report.

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I.

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

American journal of medical genetics. Part A

Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.

Transplantation and cellular therapy

Outcome After Cord Blood Transplantation Using Busulfan Pharmacokinetics-Targeted Myeloablative Conditioning for Hurler Syndrome.

Lower Exposure to Busulfan Allows for Stable Engraftment of Donor Hematopoietic Stem Cells in Children with Mucopolysaccharidosis Type I: A Case Report of Four Patients.

SAGE open medical case reports

A case study of three patients with mucopolysaccharidoses in Hue Central Hospital.

Molecular therapy : the journal of the American Society of Gene Therapy

miR-143 Regulates Lysosomal Enzyme Transport across the Blood-Brain Barrier and Transforms CNS Treatment for Mucopolysaccharidosis Type I.

Hearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysis.

Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice.

Lipids

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome).

Intravenous delivery for treatment of mucopolysaccharidosis type I: A comparison of AAV serotypes 9 and rh10.

American journal of ophthalmology case reports

Anterior segment optical coherence tomography and in vivo confocal microscopy in cases of mucopolysaccharidosis.

Treatment of Severe Kyphoscoliosis in Children with Mucopolysaccharidosis Type I (Pfaundler-Hurler Syndrome) Using the Growing Rod Technique: A Case Series with Mid-Term Results.

World neurosurgery

Journal of human genetics

Newborn screening of mucopolysaccharidoses: past, present, and future.

Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group.

Diagnostics (Basel, Switzerland)

Mucopolysaccharidosis Type I.

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

Clinical laboratory

Arquivos brasileiros de oftalmologia

Causes of congenital corneal opacities and their management in a tertiary care center.

Journal of clinical medicine

Inherited Metabolic Diseases and Cardiac Pathology in Adults: Diagnosis and Prevalence in a CardioMetabo Study.

Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.

Vestnik otorinolaringologii

[Rhinosinusitis in Hurler syndrome patients requiring hematopoietic stem cells transplantation].

Molecular genetics & genomic medicine

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

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Reduced-Toxicity (BuFlu) Conditioning Is Better Tolerated but Has a Higher Second Transplantation Rate Compared to Myeloablative Conditioning (BuCy) in Children with Inherited Metabolic Disorders.

American journal of medical genetics. Part A

Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.

Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes.

Scientific reports

Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation.

Pediatric research

Sleep & breathing = Schlaf & Atmung

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

Programmable RNA editing by recruiting endogenous ADAR using engineered RNAs.

Genetic testing and molecular biomarkers

Mutation Analysis of the IDUA Gene in Iranian Patients with Mucopolysaccharidosis Type 1: Identification of Four Novel Mutations.

The Cochrane database of systematic reviews

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

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

Clinical genetics

Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.

BMC medical genetics

Genetics in medicine : official journal of the American College of Medical Genetics

Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes.

Immune cytopenia post-cord transplant in Hurler syndrome is a forme fruste of graft rejection.

Blood advances

An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.

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

Brain & development

Molecular therapy : the journal of the American Society of Gene Therapy

ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome.

Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter.

Clinics (Sao Paulo, Brazil)

Audiometric evaluation in individuals with mucopolysaccharidosis.

Italian journal of pediatrics

Neurobehavioral phenotypes of neuronopathic mucopolysaccharidoses.

Molecular therapy. Methods & clinical development

Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Late Mortality after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A Report from the Blood or Marrow Transplant Survivor Study-2 (BMTSS-2).

Neuro-ophthalmology (Aeolus Press)

Mucopolysaccharidosis Type I and Bilateral Optic Disc Edema.

CRISPR-Cas9-mediated gene editing in human MPS I fibroblasts.

Gene

Molecular therapy. Methods & clinical development

Toxicology Study of Intra-Cisterna Magna Adeno-Associated Virus 9 Expressing Human Alpha-L-Iduronidase in Rhesus Macaques.

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

Human molecular genetics

Avoiding diagnostic delay for mucopolysaccharidosis IIIB: do not overlook common clues such as wheezing and otitis media.

BMJ case reports

Current State of the Art of Newborn Screening for Lysosomal Storage Disorders.

Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.

Diagnostic pathology

Mucopolysaccharidoses: overview of neuroimaging manifestations.

Pediatric radiology

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome.

Acta paediatrica (Oslo, Norway : 1992)

Children with mucopolysaccharidosis risk progressive visual dysfunction despite haematopoietic stem cell transplants.

Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature.

Journal of orthopaedics

Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type I.

JIMD reports

Genetics in medicine : official journal of the American College of Medical Genetics

Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Metabolic Syndrome and Cardiovascular Risk Factors after Hematopoietic Cell Transplantation in Severe Mucopolysaccharidosis Type I (Hurler Syndrome).

Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation.

Blood advances

Indian journal of anaesthesia

Unfavourable outcome after uneventful anaesthesia and surgery in a child with Hurler syndrome.

Journal of pediatric hematology/oncology

Alder-Reilly Anomaly in the Cerebrospinal Fluid of a Child With Hurler Syndrome.

RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system.

Long-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome.

Genetics and molecular research : GMR

Clinical features of Mexican patients with Mucopolysaccharidosis type I.

The American journal of cardiology

Outcome of Combined Mitral and Aortic Valve Replacement in Adults With Mucopolysaccharidosis (the Hurler Syndrome).

Developmental medicine and child neurology

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

Peculiar Clinical Presentation of Coxsackievirus B4 Infection: Neonatal Restrictive Cardiomyopathy.

AJP reports

Surgical neurology international

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

Stem cells translational medicine

Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model.

The Journal of hand surgery

The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison.

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.

Bone marrow transplantation

Changes in the incidence, patterns and outcomes of graft failure following hematopoietic stem cell transplantation for Hurler syndrome.

Early disease progression of Hurler syndrome.

Journal of neurochemistry

Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet.

Genetics in medicine : official journal of the American College of Medical Genetics

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

Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I.

Mortality after hematopoietic stem cell transplantation for severe mucopolysaccharidosis type I: the 30-year University of Minnesota experience.

Journal of orthopaedic surgery (Hong Kong)

Mid-term outcome of total hip arthroplasty using a short stem.

Arquivos de neuro-psiquiatria

Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation

Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for Inherited Metabolic Disorders.

Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience.

JIMD reports

Journal of back and musculoskeletal rehabilitation

Role of rehabilitation in Hurler's syndrome.

Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H.

Scientific reports

Anaesthesia and intensive care

Anaesthetic implications of the changing management of patients with mucopolysaccharidosis.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine

Sleep Apnea in Hurler Syndrome: Looking Beyond the Upper Airway.

Proteomic analysis of mucopolysaccharidosis I mouse brain with two-dimensional polyacrylamide gel electrophoresis.

Current opinion in hematology

Haematopoietic stem cell transplantation in inborn errors of metabolism.

Parents' experiences of living with, and caring for children, adolescents and young adults with Mucopolysaccharidosis (MPS).

Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I.

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.

Experimental eye research

A novel explanation of corneal clouding in a bone marrow transplant-treated patient with Hurler syndrome.

Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.

Clinical genetics

Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series.

ACS medicinal chemistry letters

Design of Novel Aminoglycoside Derivatives with Enhanced Suppression of Diseases-Causing Nonsense Mutations.

The Cochrane database of systematic reviews

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

12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.

BMC medical genetics

2015

Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant.

The Journal of bone and joint surgery. American volume

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

The Neurobehavioral Phenotype in Mucopolysaccharidosis Type IIIB: an Exploratory Study.

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

Laronidase desensitization during stem cell transplant in a child with Hurler syndrome.

Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.