Research graph
References from CSF GAG non-reducing ends in MPS IH after peripheral and brain-penetrating therapies: A model comparing IV non-targeted ERT and HCT. Local targets link to admitted publications; unresolved targets remain external evidence.
Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts
10.1126/science.162.3853.570 · 1968 · External reference
Human alpha-L-iduronidase: cDNA isolation and expression
10.1073/pnas.88.21.9695 · 1991 · External reference
Murine alpha-L-iduronidase: cDNA isolation and expression
10.1006/geno.1994.1621 · 1994 · External reference
Enzyme-replacement therapy in mucopolysaccharidosis I
10.1056/nejm200101183440304 · 2001 · External reference
Enzyme replacement therapy in feline mucopolysaccharidosis I
10.1006/mgme.2000.3140 · 2001 · External reference
Reversal of clinical features of Hurler’s disease and biochemical improvement after treatment by bone-marrow transplantation
10.1016/s0140-6736(81)91046-1 · 1981 · External reference
Intrathecal administration of AAV vectors for the treatment of lysosomal storage in the brains of MPS I mice
10.1038/sj.gt.3302735 · 2006 · External reference
Mucopolysaccharidosis I: management and treatment guidelines
10.1542/peds.2008-0416 · 2009 · External reference
Early skeletal outcomes after hematopoietic stem and progenitor cell gene therapy for Hurler syndrome
10.1126/scitranslmed.adi8214 · 2024 · External reference
Loss of early myeloid donor cell engraftment into the central nervous system with nonmyeloablative conditioning
10.1182/bloodadvances.2023010923 · 2023 · External reference
Donor bone marrow-derived macrophage engraftment into the central nervous system of patients following allogeneic transplantation
10.1182/bloodadvances.2023010409 · 2023 · External reference
Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases
10.1177/096368979500400409 · 1995 · External reference
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndrome
10.1097/01.gim.0000154299.22120.6a · 2005 · External reference
Haematopoietic cell transplantation (HCT) in combination with enzyme replacement therapy (ERT) in patients with Hurler syndrome
10.1038/sj.bmt.1705401 · 2006 · External reference
Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome
10.1038/sj.bmt.1705934 · 2008 · External reference
Hurler Syndrome Glycosaminoglycans Decrease in Cerebrospinal Fluid without Brain-Targeted Therapy
10.1002/ana.26786 · 2023 · External reference
Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes
10.1038/s41436-019-0522-1 · 2019 · External reference
Hematopoietic Stem- and Progenitor-Cell Gene Therapy for Hurler Syndrome
10.1056/nejmoa2106596 · 2021 · External reference
High-dose enzyme replacement therapy in murine Hurler syndrome
10.1016/j.ymgme.2013.09.008 · 2014 · External reference
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
10.1182/blood-2014-11-608075 · 2015 · External reference
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial
10.1016/j.ymgme.2018.10.006 · 2019 · External reference
A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II
10.1016/j.ymthe.2020.09.039 · 2021 · External reference
Treatment of brain disease in the mucopolysaccharidoses
10.1016/j.ymgme.2017.10.007 · 2017 · External reference
Involvement of the Toll-like receptor 4 pathway and use of TNF-alpha antagonists for treatment of the mucopolysaccharidoses
10.1073/pnas.0912937107 · 2010 · External reference
Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines
10.1016/j.bbmt.2015.02.011 · 2015 · External reference
Enzyme replacement with transferrin receptor-targeted alpha-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice
10.1016/j.omtm.2023.05.010 · 2023 · External reference
A Blood-Brain-Barrier-Penetrating Anti-human Transferrin Receptor Antibody Fusion Protein for Neuronopathic Mucopolysaccharidosis II
10.1016/j.ymthe.2018.02.032 · 2018 · External reference
alpha-L-iduronidase fused with humanized anti-human transferrin receptor antibody (lepunafusp alfa) for mucopolysaccharidosis type I: A phase 1/2 trial
10.1016/j.ymthe.2024.01.009 · 2024 · External reference
Replacing the enzyme alpha-L-iduronidase at birth ameliorates symptoms in the brain and periphery of dogs with mucopolysaccharidosis type I
10.1126/scitranslmed.3001380 · 2010 · External reference
Evaluation of non-reducing end pathologic glycosaminoglycan detection method for monitoring therapeutic response to enzyme replacement therapy in human mucopolysaccharidosis I
10.1016/j.ymgme.2019.09.001 · 2020 · External reference
Comparison of dermatan sulfate and heparan sulfate concentrations in serum, cerebrospinal fluid and urine in patients with mucopolysaccharidosis type I receiving intravenous and intrathecal enzyme replacement therapy
10.1016/j.cca.2020.05.035 · 2020 · External reference
Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier
10.1073/pnas.0405042101 · 2004 · External reference
Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction
1986 · External reference
Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice
10.1172/jci195268 · 2025 · External reference
18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I
10.1002/ajmg.a.63029 · 2023 · External reference
Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
10.1016/j.ymgme.2013.11.015 · 2014 · External reference
Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice
10.1016/j.ymgme.2013.03.005 · 2013 · External reference
Enzyme-replacement therapy in a 5-month-old boy with attenuated presymptomatic MPS I: 5-year follow-up
10.1542/peds.2009-1728 · 2010 · External reference
Hematopoietic stem cell transplant for Hurler syndrome: does using bone marrow or umbilical cord blood make a difference?
10.1182/bloodadvances.2022007212 · 2022 · External reference
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses
10.1038/nchembio.766 · 2012 · External reference
Elevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
10.1038/srep38305 · 2016 · External reference
Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I
2021 · External reference
