ArticleDiagnostics (Basel, Switzerland)2020
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings.
Article in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 14 citations in OpenAlex.
- Comprehensive analysis of hearing function in Morquio A syndrome: Implications for diagnosis and management.Molecular genetics and metabolism · 2026Article
- Early Versus Late Enzyme Replacement Therapy in Siblings With Morquio A Syndrome: Insights Into Therapeutic Timing.JIMD reports · 2026Article
- Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.Orphanet journal of rare diseases · 2026Article
- Natural History of Morquio A Syndrome.Journal of inherited metabolic disease · 2026Review
- Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.Research square · 2026Article
- Long-term outcomes of elosulfase alfa enzyme replacement therapy in adults with MPS IVA: a sub-analysis of the Morquio A Registry Study (MARS).Orphanet journal of rare diseases · 2025Article
- Radiographic assessment of mucopolysaccharidoses: A pictorial review.World journal of clinical pediatrics · 2025Review
- Assessment of different promoters in lentiviral vectors for expression of the N-acetyl-galactosamine-6-sulfate sulfatase gene.Journal of human genetics · 2025Article
- Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.International journal of molecular sciences · 2025Article
- Real-world treatment with elosulfase alfa in patients with MPS IVA is associated with improved endurance over time.Genetics in medicine open · 2025Article
- Clinical characteristics and effects of enzyme replacement therapy with elosulfase alfa in Korean patients with mucopolysaccharidosis type IVA.Molecular genetics and metabolism reports · 2022Article
- Morquio A syndrome and effect of enzyme replacement therapy in different age groups of Turkish patients: a case series.Orphanet journal of rare diseases · 2021Article
- Correction: Barak, S.Diagnostics (Basel, Switzerland) · 2020Article
Corrections and comments
- Erratum issued
Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enzyme replacement therapy (ERT) is one of the available therapies for mucopolysaccharidosis (MPS). This study presents a follow-up of two siblings with MPS IVA (Morquio A disease) that received ERT. Both siblings received weekly intravenous infusions of elosulfase alfa for 4.5 years. One sibling (patient 1, P1; male) started therapy at 54 months of age, and the other sibling (patient 2, P2; female) started at 11 months of age. ERT was well-tolerated. In comparison to P1, P2's growth curves deviated less from the norm. The orthopedic deformities of P1 were more severe than those of P2 and required several surgical corrections. P1's sleep test at 48 months revealed obstructive sleep apnea, while by the age of 102 months, parameters were normal. P2 never had sleep apnea. Only P1 demonstrated ear, nose, and throat clinical illnesses. In comparison to P1, P2's physical function was better maintained. In conclusion, ERT was safe in both patients during a 4.5-year follow-up. Although the typical characteristics of this disease were similar in both patients, P1 had a complex clinical course in comparison to P2, which influenced function and quality of life. Therefore, in order to make the most of ERT, it may be more beneficial when initiated at a relatively young age.
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