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

Case challenges in genetics

Joel Charrow

    Pediatric Annals
    |May 23, 2007
    PubMed
    Summary

    No abstract available in PubMed .

    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

    Rising Inpatient Demands for Inherited Metabolic Disorders: Impact on Pediatric Capacity.

    American journal of medical genetics. Part A·2026
    Same author

    Further Clinical and Biochemical Phenotype of GLA p.A143T: A Fabry Disease Newborn Screening Experience.

    Nephron·2025
    Same author

    Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.

    American journal of medical genetics. Part C, Seminars in medical genetics·2024
    Same author

    Aminotransferase trends in propionic acidemia.

    American journal of medical genetics. Part A·2024
    Same author

    Long-term effectiveness of eliglustat treatment: A real-world analysis from the International Collaborative Gaucher Group Gaucher Registry.

    American journal of hematology·2024
    Same author

    Treatment-naive and post-treatment glucosylsphingosine (lyso-GL1) levels in a cohort of pediatric patients with Gaucher disease.

    Molecular genetics and metabolism·2023