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

Biotin-responsive alopecia and developmental regression

B M Charles, G Hosking, A Green

    Lancet (London, England)
    |July 21, 1979
    PubMed
    Summary
    This summary is machine-generated.

    A biotin deficiency in an infant caused severe hypotonia, dermatitis, and alopecia. Oral biotin supplementation led to significant recovery, suggesting a potential issue with biotin absorption or transport.

    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

    Neonatal screening: current trends and quality control in the United Kingdom.

    Rinsho byori. The Japanese journal of clinical pathology·1998
    Same author

    Identification of non-heme diiron proteins that catalyze triple bond and epoxy group formation.

    Science (New York, N.Y.)·1998
    Same author

    Current concepts of shoulder arthroplasty.

    Instructional course lectures·1998
    Same author

    Systemic lupus erythematosus in Denmark: clinical and epidemiological characterization of a county-based cohort.

    Scandinavian journal of rheumatology·1998
    Same author

    Inhibition of protein synthesis by nitric oxide correlates with cytostatic activity: nitric oxide induces phosphorylation of initiation factor eIF-2 alpha.

    Molecular medicine (Cambridge, Mass.)·1998
    Same author

    Comparative pupil dilation using phenylephrine alone or in combination with tropicamide.

    Ophthalmology·1998
    Same journal

    Rethinking anticoagulation intensity during extracorporeal membrane oxygenation.

    Lancet (London, England)·2026
    Same journal

    Standard-dose unfractionated heparin versus low-dose unfractionated heparin and low-molecular-weight heparin in extracorporeal life support (RATE): an open-label, randomised, non-inferiority trial.

    Lancet (London, England)·2026
    Same journal

    Inherited retinal degenerations: clinical phenotypes and emerging therapies.

    Lancet (London, England)·2026
    Same journal

    Documenting hospice care.

    Lancet (London, England)·2026
    Same journal

    After the wood chipper.

    Lancet (London, England)·2026
    Same journal

    Assisted dying and the silencing of medicine's next generation.

    Lancet (London, England)·2026
    See all related articles

    Area of Science:

    • Biochemistry
    • Pediatric Medicine
    • Nutritional Science

    Background:

    • A 10-month-old boy exhibited severe hypotonia, dermatitis, and alopecia.
    • Urinary organic acid screening showed elevated 3-hydroxyisovaleric acid, beta-methylcrotonylglycine, and 3-hydroxypropionate.
    • Enzyme activity assays for propionyl CoA carboxylase, beta-methylcrotonyl CoA carboxylase, and pyruvate carboxylase were within normal limits in cultured fibroblasts.