ArticleJournal of inherited metabolic disease2017
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.
Article in Journal of inherited metabolic disease, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Adult disease burden in patients with mucopolysaccharidosis type I H (Hurler syndrome): A comprehensive literature review with patient case analysis.Molecular genetics and metabolism reports · 2026Review
- RNA activation as a precision dosing modality: MTL-CEBPA for controlled enzyme elevation in MPS I-H.Frontiers in medicine · 2026Article
- Ultrasound-guided one-point puncture lumbosacral plexus block combined with laryngeal mask airway general anesthesia for thigh amputation in a patient with mucopolysaccharidosis: a case report.Frontiers in medicine · 2026Article
- Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses.Molecular genetics and metabolism reports · 2025Article
- Enzyme replacement with transferrin receptor-targeted α-L-iduronidase rescues brain pathology in mucopolysaccharidosis I mice.Molecular therapy. Methods & clinical development · 2023Article
- Burden of Morbidity after Allogeneic Blood or Marrow Transplantation for Inborn Errors of Metabolism: A BMT Survivor Study Report.Transplantation and cellular therapy · 2022Article
- Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention.Frontiers in cardiovascular medicine · 2022Review
- Long term disease burden post-transplantation: three decades of observations in 25 Hurler patients successfully treated with hematopoietic stem cell transplantation (HSCT).Orphanet journal of rare diseases · 2021Article
- Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement.Biomolecules · 2021Review
- 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.International journal of molecular sciences · 2020Article
- Critical clinical situations in adult patients with Mucopolysaccharidoses (MPS).Orphanet journal of rare diseases · 2020Article
- Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.BioMed research international · 2020Review
- Lysosomal Acid Lipase Deficiency: Therapeutic Options.Drug design, development and therapy · 2020Review
- Genetic testing of Mucopolysaccharidoses disease using multiplex PCR- based panels of STR markers: in silico analysis of novel mutations.Metabolic brain disease · 2019Article
- Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I.Nature communications · 2019Article
- Hematopoietic Stem Cell Transplantation for Mucopolysaccharidoses: Past, Present, and Future.Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation · 2019Review
- Review
- An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States.Orphanet journal of rare diseases · 2019Article
- Lysosomal diseases: Overview on current diagnosis and treatment.Genetics and molecular biology · 2019Article
Corrections and comments
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF). Twelve were alive-and-engrafted after second HSCT. The overall survival at one year and 20-years was the same at 73.7%. Six children were followed up at the referral centers and excluded from cardiopulmonary endpoint review. Of the 33 evaluable children for the cardiopulmonary endpoints, nine (27.3%) had normal cardiac assessment. Of the four children on angiotensin-converting-enzyme inhibitors, two had mild cardiomyopathy and two had aortic valvular replacement. Twenty (60%) had mild/moderate mitral and/or aortic insufficiencies. Two had overnight hypoxia needing nocturnal non-invasive support. Enzyme level and donor chimerism are important predictors of long-term cardiac outcome.
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Registered trials
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