ReviewItalian journal of pediatrics2018
Mucopolysaccharidoses: early diagnostic signs in infants and children.
Review in Italian journal of pediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 1 of them a synthesis that pooled it.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Efficacy of different treatment strategies in patients with mucopolysaccharidosis: a systematic review and network meta-analysis of randomized controlled trials.Orphanet journal of rare diseases · 2025Pooled it
- Impact of Mucopolysaccharidosis Type II in Young Children from the Caregiver's Perspective: A Qualitative Study.Advances in therapy · 2026Article
- Dental Health in Pediatric Patients With Different Types of Mucopolysaccharidosis: Retrospective Cross-Sectional Study.JMIR pediatrics and parenting · 2026Article
- Congenital Dermal Melanocytosis Exhibited in Two Patients with Hurler Syndrome: Clinical Characterization and Report of a RecurrentInternational journal of molecular sciences · 2025Article
- Mucopolysaccharidoses-What Clinicians Need to Know: A Clinical, Biochemical, and Molecular Overview.Biomolecules · 2025Review
- Neonatal gene therapy effectively prevents disease manifestations in a murine model of Mucopolysaccharidosis type I.Molecular therapy. Methods & clinical development · 2025Article
- rhGALNS Enzyme Stability in Physiological Buffers: Implications for Sustained Release.Applied biochemistry and biotechnology · 2025Article
- Pediatric Interventions in a Sanfilippo Syndrome Patient Under General Anesthesia: A Case Report.Case reports in dentistry · 2025Article
- Otorhinolaryngological Problems in Mucopolysaccharidoses: A Review of Common Symptoms in a Rare Disease.Brain sciences · 2024Review
- The diagnosis and management of mucopolysaccharidosis type II.Italian journal of pediatrics · 2024Review
- CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis.Biochemistry and biophysics reports · 2024Review
- Lung Diseases and Rare Disorders: Is It a Lysosomal Storage Disease? Differential Diagnosis, Pathogenetic Mechanisms and Management.Children (Basel, Switzerland) · 2024Review
- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB.iScience · 2024Article
- Morquio B disease: a case report.Frontiers in pediatrics · 2024Article
- Child Neurology: Mucopolysaccharidosis IIID: Evidence From Ultrastructural and Genomic Study.Neurology · 2023Article
- A Cross-Sectional Study of the Dermatological Manifestations of Patients with Fabry Disease and the Assessment of Angiokeratomas with Multimodal Imaging.Diagnostics (Basel, Switzerland) · 2023Article
- Diagnosis and Management of Mucopolysaccharidosis Type II (Hunter Syndrome) in Poland.Biomedicines · 2023Review
- Mucopolysaccharidosis: What Pediatric Rheumatologists and Orthopedics Need to Know.Diagnostics (Basel, Switzerland) · 2022Review
- Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.Journal of medical genetics · 2022Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mucopolysaccharidoses (MPS) comprise a group of lysosomal disorders that are characterized by progressive, systemic clinical manifestations and a coarse phenotype. The different types, having clinical, biochemical, and genetic heterogeneity, share key clinical features in varying combinations, including joint and skeletal dysplasia, coarse facial features, corneal clouding, inguinal or abdominal hernias, recurrent upper respiratory tract infections, heart valve disease, carpal tunnel syndrome, and variable neurological involvement. In the severe forms, these features usually appear in the first months of life, but a correct diagnosis is often reached later when suggestive signs are manifest. All MPS types may have severe or attenuated presentations depending on the residual enzymatic activity of the patient. Based on data from the literature and from personal experience, here we underline the very early signs of the severe forms which should alert the paediatrician on their first appearance. A few early signs are typical of MPS (i.e. gibbus) while many are unspecific (hernias, upper airway infections, organomegaly, etc.), and finding the association of many unspecific signs might prompt the paediatrician to search for a common cause and to carefully look for other more specific signs (gibbus and other skeletal deformities, heart murmur). We stress the need to increase awareness of MPS among paediatricians and other specialists to shorten the still existing diagnostic delay. A timely diagnosis is mandatory for the commencement of treatment as soon as possible, when available, to possibly obtain better results.
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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.