Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The mucopolysaccharidoses.

J E Wraith1, J G Rogers, D M Danks

  • 1Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.

Australian Paediatric Journal
|December 1, 1987
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Reducing Potentially Preventable Dental Hospitalizations of Young Children: A Community-Level Analysis.

JDR clinical and translational research·2019
Same author

Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation.

JIMD reports·2016
Same author

The future direction of the adult heart allocation system in the United States.

American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons·2014
Same author

Mucopolysaccharidosis type I.

Pediatric endocrinology reviews : PER·2014
Same author

Failure to confirm abnormal copper utilization in crinkler (cr) mice.

Biological trace element research·2013
Same author

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2.

Molecular genetics and metabolism·2012
Same journal

Systemic candidiasis with DIC and candida endophthalmitis in a postoperative neonate.

Australian paediatric journal·1989
Same journal

Urinary tract calculi in aboriginal children.

Australian paediatric journal·1989
Same journal

Fetal echocardiography in the diagnosis of congenital heart disease.

Australian paediatric journal·1989
Same journal

Congenital tuberculosis.

Australian paediatric journal·1989
Same journal

Radiological and clinical features of basal ganglia infarction in tuberculous meningitis.

Australian paediatric journal·1989
Same journal

Faecal incontinence in childhood: a multidisciplinary approach including biofeedback.

Australian paediatric journal·1989
See all related articles

This study reviews the management of mucopolysaccharidosis (MPS) in children. It details the presentation, diagnosis, and outcomes for 69 patients with these lysosomal storage diseases.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Mucopolysaccharidoses (MPS) are a group of rare genetic disorders.
  • Characterized by the lysosomal accumulation of undegraded glycosaminoglycans (GAGs).
  • This leads to progressive cellular damage and multisystemic manifestations.

Purpose of the Study:

  • To describe the clinical experience at the Royal Children's Hospital in managing pediatric patients with mucopolysaccharidosis.
  • To outline the diverse clinical presentations, diagnostic approaches, and patient outcomes within the MPS spectrum.
  • To provide insights into the challenges and successes of managing these complex conditions.

Main Methods:

  • Retrospective review of 69 pediatric patients diagnosed with various forms of mucopolysaccharidosis.

Related Experiment Videos

  • Analysis of patient data including clinical presentation, diagnostic methods (biochemical and genetic), and treatment interventions.
  • Evaluation of clinical outcomes and disease progression over time.

    • Main Results:

    • The study encompasses a cohort of 69 children diagnosed with mucopolysaccharidosis.
    • Significant heterogeneity in disease presentation, severity, and progression was observed across different MPS subtypes.
    • Key diagnostic challenges and treatment outcomes are detailed for the patient group.

    Conclusions:

    • Effective management of mucopolysaccharidosis requires a multidisciplinary approach tailored to individual patient needs.
    • Early diagnosis and intervention are crucial for optimizing clinical outcomes in pediatric MPS patients.
    • Continued research and clinical experience are vital for improving the long-term prognosis of individuals with MPS.