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

Basic findings and current developments in sphingolipidoses.

H Pilz, R Heipertz, D Seidel

    Human Genetics
    |March 12, 1979
    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

    Linking sap flow and tree water deficit in an unmanaged, mixed beech forest during the summer drought 2022.

    Plant biology (Stuttgart, Germany)·2024
    Same author

    Voriconazole plus terbinafine combination antifungal therapy for invasive Lomentospora prolificans infections: analysis of 41 patients from the FungiScope® registry 2008-2019.

    Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases·2020
    Same author

    Healthcare burden of probable and proven invasive mucormycosis: a multi-centre cost-of-illness analysis of patients treated in tertiary care hospitals between 2003 and 2016.

    The Journal of hospital infection·2018
    Same author

    Impact of TP53 mutation status on systemic treatment outcome in ALK-rearranged non-small-cell lung cancer.

    Annals of oncology : official journal of the European Society for Medical Oncology·2018
    Same author

    [Evaluation of the infrastructure for clinical surgical studies in Germany : A nationwide survey of the surgical study network CHIR-Net].

    Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen·2018
    Same author

    [What is new in symptomatic MS treatment: Part 3-bladder dysfunction].

    Der Nervenarzt·2017
    Same journal

    AI in variant analysis: fast track to genetic diagnoses.

    Human genetics·2026
    Same journal

    Combined family-based association and linkage analyses in families affected by attention-deficit hyperactivity disorder.

    Human genetics·2026
    Same journal

    Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.

    Human genetics·2026
    Same journal

    ARHI as a key regulator of EMT and metastasis in pancreatic cancer via the Notch-1 pathway.

    Human genetics·2026
    Same journal

    Large-scale mitogenome analysis reveals complex maternal genetic connections between Sino-Tibetan- and Altaic-speaking populations.

    Human genetics·2026
    Same journal

    Correction: A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification.

    Human genetics·2026
    See all related articles

    Sphingolipidoses result from genetic defects in lysosomal hydrolases. This review covers clinical features and diagnostic methods for various sphingolipidoses, including Gaucher

    Area of Science:

    • Biochemistry
    • Genetics
    • Molecular Biology

    Background:

    • Sphingolipidoses are a group of inherited metabolic disorders.
    • These conditions arise from deficiencies in lysosomal hydrolase enzymes.
    • They lead to the accumulation of specific lipids within cells.

    Purpose of the Study:

    • To present the clinical backgrounds of various sphingolipidoses.
    • To outline current biochemical and genetic diagnostic approaches.
    • To review different forms and variants of these lysosomal storage diseases.

    Main Methods:

    • Review of clinical presentations.
    • Analysis of biochemical assays for enzyme deficiencies.
    • Examination of genetic testing methodologies.

    Related Experiment Videos

    Main Results:

    • Detailed descriptions of gangliosidoses, Fabry disease, Krabbe disease, metachromatic leukodystrophies, Gaucher disease, Niemann-Pick disease, and Farber disease.
    • Overview of diagnostic challenges and advancements.
    • Highlighting the heterogeneity within each sphingolipidosis type.

    Conclusions:

    • Sphingolipidoses are a diverse group of recessively inherited lysosomal storage diseases.
    • Accurate diagnosis relies on a combination of clinical, biochemical, and genetic evaluations.
    • Understanding these approaches is crucial for effective management and potential therapies.