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

Mannosidosis. Clinical and biochemical study.

P J Milla, I E Black, A D Patrick

    Archives of Disease in Childhood
    |December 1, 1977
    PubMed
    Summary
    This summary is machine-generated.

    Mannosidosis, a rare genetic disorder, presents unique clinical and biochemical features distinct from Hurler syndrome. Diagnosis involves identifying excess oligosaccharides and confirming low acidic alpha-mannosidase activity, enabling prenatal diagnosis.

    Related Experiment Videos

    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

    A practical guide for the diagnosis of primary enteric nervous system disorders.

    Journal of pediatric gastroenterology and nutrition·2013
    Same author

    Quantitation of cellular components of the enteric nervous system in the normal human gastrointestinal tract--report on behalf of the Gastro 2009 International Working Group.

    Neurogastroenterology and motility·2010
    Same author

    Gonadal Dysgenesis with Unusual Abnormalities.

    Archives of disease in childhood·2010
    Same author

    Systemic vasculitis: a cause of indeterminate intestinal inflammation.

    Journal of pediatric gastroenterology and nutrition·2006
    Same author

    Management of fulminating ulcerative colitis in childhood with chimeric anti-CD25 antibody.

    Journal of pediatric gastroenterology and nutrition·2006
    Same author

    Consumerism in healthcare can be detrimental to child health: lessons from children with functional abdominal pain.

    Archives of disease in childhood·2005
    Same journal

    Radical overhaul needed for children's hearing services could start with the management of glue ear.

    Archives of disease in childhood·2026
    Same journal

    Protecting adolescent confidentiality in the digital age: a global call for adolescent-informed electronic health records.

    Archives of disease in childhood·2026
    Same journal

    Diagnostic accuracy study assessing the ability of paediatric asthma scores to predict admission following initial emergency department bronchodilator therapy: a Clinical Asthma Scoring systems in Paediatric Emergency (CASPER) study.

    Archives of disease in childhood·2026
    Same journal

    Artificial intelligence for child health: current capabilities and the next frontier.

    Archives of disease in childhood·2026
    Same journal

    Troubled origins and lasting impact of the first insulin injection.

    Archives of disease in childhood·2026
    Same journal

    Paediatric readiness assessment tools in emergency care: a scoping review.

    Archives of disease in childhood·2026
    See all related articles

    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Mannosidosis is a rare lysosomal storage disorder.
    • Clinical presentation can mimic other genetic conditions like Hurler syndrome.
    • Accurate diagnosis is crucial for patient management.