ReviewGenetics and molecular biology2014
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America.
Review in Genetics and molecular biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 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
21 citing papers in PubMed, 53 citations in OpenAlex.
- Harmonizing Perspectives on MPS II Care in Türkiye: A Delphi Study Towards Treatment Management Consensus.Healthcare (Basel, Switzerland) · 2026Article
- Article
- Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China.Genome medicine · 2025Article
- Disease features and management of cardiomyopathies in women.Heart failure reviews · 2024Review
- First-in-human in vivo genome editing via AAV-zinc-finger nucleases for mucopolysaccharidosis I/II and hemophilia B.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II.Metabolic brain disease · 2022Article
- A new strategy of desensitization in mucopolysaccharidosis type II disease treated with idursulfase therapy: A case report and review of the literature.Molecular genetics and metabolism reports · 2022Article
- Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.Heliyon · 2020Review
- Mucopolysaccharidoses I and II: Brief Review of Therapeutic Options and Supportive/Palliative Therapies.BioMed research international · 2020Review
- Assessing the impact on caregivers caring for patients with rare pediatric lysosomal storage diseases: development of the Caregiver Impact Questionnaire.Journal of patient-reported outcomes · 2019Article
- Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.European journal of pediatrics · 2019Article
- A New Mutation inFrontiers in genetics · 2019Article
- Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.Italian journal of pediatrics · 2018Review
- Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.Medicine · 2018Observational
- Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).Orphanet journal of rare diseases · 2018Article
- Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.JIMD reports · 2018Article
- Presentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).Expert opinion on orphan drugs · 2017Article
- Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future.Drug design, development and therapy · 2017Review
- Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II.JIMD reports · 2017Article
Corrections and comments
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Authors and funding
12 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This review aims to provide clinicians in Latin America with the most current information on the clinical aspects, diagnosis, and management of Hunter syndrome, a serious and progressive disease for which specific treatment is available. Hunter syndrome is a genetic disorder where iduronate-2-sulfatase (I2S), an enzyme that degrades glycosaminoglycans, is absent or deficient. Clinical manifestations vary widely in severity and involve multiple organs and tissues. An attenuated and a severe phenotype are recognized depending on the degree of cognitive impairment. Early diagnosis is vital for disease management. Clinical signs common to children with Hunter syndrome include inguinal hernia, frequent ear and respiratory infections, facial dysmorphisms, macrocephaly, bone dysplasia, short stature, sleep apnea, and behavior problems. Diagnosis is based on screening urinary glycosaminoglycans and confirmation by measuring I2S activity and analyzing I2S gene mutations. Idursulfase (recombinant I2S) (Elaprase(®), Shire) enzyme replacement therapy (ERT), designed to address the underlying enzyme deficiency, is approved treatment and improves walking capacity and respiratory function, and reduces spleen and liver size and urinary glycosaminoglycan levels. Additional measures, responding to the multi-organ manifestations, such as abdominal/inguinal hernia repair, carpal tunnel surgery, and cardiac valve replacement, should also be considered. Investigational treatment options such as intrathecal ERT are active areas of research, and bone marrow transplantation is in clinical practice. Communication among care providers, social workers, patients and families is essential to inform and guide their decisions, establish realistic expectations, and assess patients' responses.
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What OpenQuestion holds
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.