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

Metabolic disorders in children

A A Morris1, D M Turnbull

  • 1University of Newcastle Medical School, Newcastle upon Tyne, UK.

Current Opinion in Neurology
|December 1, 1994
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

Systematic review of cognitive deficits in adult mitochondrial disease.

European journal of neurology·2019
Same author

Design and baseline characteristics of the Biomarkers Of Risk In Colorectal Cancer (BORICC) Follow-Up study: A 12+ years follow-up.

Nutrition and health·2019
Same author

Effects of obesity and weight loss on mitochondrial structure and function and implications for colorectal cancer risk.

The Proceedings of the Nutrition Society·2019
Same author

A case-comparison study of pregnant women with mitochondrial disease - what to expect?

BJOG : an international journal of obstetrics and gynaecology·2019
Same author

Mitochondrial respiratory chain function and content are preserved in the skeletal muscle of active very old men and women.

Experimental gerontology·2018
Same author

Mitochondrial disease in pregnancy: a systematic review.

Obstetric medicine·2016

Gene therapy for liver diseases shows significant progress, with new gene discoveries aiding diagnosis and genetic counseling. Advances in neonatal screening and treatments for conditions like adrenoleukodystrophy and phenylketonuria are also highlighted.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Gene therapy research has advanced significantly, particularly for liver-directed treatments.
  • Progress in molecular biology research is rapidly evolving.
  • Neurological and metabolic disorders present ongoing research challenges.

Purpose of the Study:

  • To review recent advancements in gene therapy, focusing on liver-directed treatments.
  • To highlight the identification of genes and mutations for various inherited diseases.
  • To discuss breakthroughs in neonatal screening and dietary interventions for metabolic disorders.

Main Methods:

  • Gene characterization for diseases including Wilson's disease, Krabbe's disease, Canavan's disease, and adrenoleukodystrophy.
  • Application of tandem mass spectrometry for neonatal screening.

Related Experiment Videos

  • Review of therapeutic strategies such as Lorenzo's oil and dietary modifications.

    • Main Results:

    • Identification of key genes for Wilson's, Krabbe's, Canavan's diseases, and others.
    • Successful application of tandem mass spectrometry in neonatal screening programs.
    • Demonstrated efficacy of Lorenzo's oil for adrenoleukodystrophy and revised diets for phenylketonuria.

    Conclusions:

    • Significant progress in gene therapy, especially for liver-related genetic disorders.
    • Improved diagnostic capabilities and genetic counseling due to mutation identification.
    • Key advances in neonatal screening and management of inherited metabolic diseases.