ArticleMolecular genetics and metabolism reports2015
Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.
Article in Molecular genetics and metabolism reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
- Allogeneic Hematopoietic Stem Cell Transplantation as a Therapeutic Approach for Hereditary Diseases.Biomedicines · 2025Review
- Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.Italian journal of pediatrics · 2025Article
- Molecular Mechanisms in Pathophysiology of Mucopolysaccharidosis and Prospects for Innovative Therapy.International journal of molecular sciences · 2024Review
- MPSI Manifestations and Treatment Outcome: Skeletal Focus.International journal of molecular sciences · 2022Review
- Bone Remodeling in an Mps-1h Girl after Hematopoietic Stem Cell Transplantation along with Enzymatic Replacement Therapy.Endocrine, metabolic & immune disorders drug targets · 2022Article
- 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
- Cell-Based Delivery Approaches for DNA-Binding Domains to the Central Nervous System.Current neuropharmacology · 2021Review
- 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
- Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.Orphanet journal of rare diseases · 2019Review
- CASE SERIES OF PATIENTS UNDER BIWEEKLY TREATMENT WITH LARONIDASE: A REPORT OF A SINGLE CENTER EXPERIENCE.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2019Article
- Short stature as a presenting symptom of attenuated Mucopolysaccharidosis type I: case report and clinical insights.BMC endocrine disorders · 2018Article
- Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.Acta paediatrica (Oslo, Norway : 1992) · 2018Article
- Hematopoietic Stem Cell Gene Therapy for Storage Disease: Current and New Indications.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Review
- Non-invasive pulmonary function test on Morquio patients.Journal of rare diseases research & treatment · 2017Article
- Activity of daily living for Morquio A syndrome.Molecular genetics and metabolism · 2016Article
- Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?Journal of inherited metabolic disease · 2016Review
- Hematopoietic stem cell transplantation for Morquio A syndrome.Molecular genetics and metabolism · 2016Article
- Current therapies for Morquio A syndrome and their clinical outcomes.Expert opinion on orphan drugs · 2016Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Mucopolysaccharidosis type I (MPS I; Hurler Syndrome) is a lysosomal storage disease caused by a deficiency of the enzyme α-L-iduronidase which affects multiple organs such as central nervous system (CNS), skeletal system, and physical appearance. Hematopoietic stem cell transplantation (HSCT) is recommended as a primary therapeutic option at an early stage of MPS I with a severe form to ameliorate CNS involvement; however, no description of pathological improvement in skeletal dysplasia has been investigated to date. We here report a 15-year-old male case with MPS I post-HSCT. This patient received successful HSCT at the age of 2 years and 1 month, followed for over 10 years. His activity of daily living including cognitive performance has been kept normal and the present height and weight are 162 cm and 55 kg. Bone deformity has been still developed, resulting in hemiepiphysiodesis of bilateral medial proximal tibia at 12 years of age and successive arthrodesis of thoraco-lumbar spine at 13 years of age; however, skeletal histopathology from surgical remnants showed substantial improvement in bone lesion with markedly reduced occurrence and cell size of vacuolated cells. After a series of surgical procedures, he became ambulant and independent in daily activity. The levels of GAGs in blood were substantially reduced. In conclusion, this long-term post-HSCT observation should shed light on a new aspect of therapeutic effect associated with skeletal pathology and GAG levels as a biomarker, indicating that HSCT is a primary choice at an early stage for not only CNS but skeletal system in combination of appropriate surgical procedures.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.