Jove
Visualize
Contact Us

Related Experiment Videos

Hematologic aberrations in metabolic diseases.

B A Buehler

    Annals of Clinical and Laboratory Science
    |November 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    This study examines enzyme deficiencies and blood disorders in metabolic diseases, including amino acid, lipid, carbohydrate, and mucopolysaccharidosis disorders. It highlights key hematologic aberrations linked to these genetic conditions.

    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

    Interleukin-1beta upregulates MMP-9 expression in stromal cells of human giant cell tumor of bone.

    Journal of interferon & cytokine research : the official journal of the International Society for Interferon and Cytokine Research·1999
    Same author

    Transcriptional regulation of MMP-9 expression in stromal cells of human giant cell tumor of bone by tumor necrosis factor-alpha.

    International journal of oncology·1999
    Same author

    Accelerated linear growth and advanced bone age in Sotos syndrome is not associated with abnormalities of collagen metabolism.

    Clinical biochemistry·1998
    Same author

    Oral-facial-digital syndrome type I.

    Ear, nose, & throat journal·1997
    Same author

    Regulation of MMP-9 (92 kDa type IV collagenase/gelatinase B) expression in stromal cells of human giant cell tumor of bone.

    Clinical & experimental metastasis·1997
    Same author

    Institutional change. Experiences in two departments.

    Journal of general internal medicine·1997
    Same journal

    <i>Letter to the Editor:</i> Detection of <i>Chlamydia trachomatis</i> Immunoglobulin E Antibody in Human Sera.

    Annals of clinical and laboratory science·2026
    Same journal

    Comparison of the DNA Preservation Capacity of Two Methods for the Long-Term Cryopreservation of Whole Blood Samples.

    Annals of clinical and laboratory science·2026
    Same journal

    Recurrence of Primary Mediastinal Yolk Sac Tumor with Brain Metastases: A Case Report and Literature Review.

    Annals of clinical and laboratory science·2026
    Same journal

    Intraoperative Imprint Cytology of <i>SMARCB1</i>-Mutant Desmoplastic Myxoid Tumor of the Pineal Region: A Case Report with Cytologic Differential Diagnosis and Literature Review.

    Annals of clinical and laboratory science·2026
    Same journal

    Bergenin Suppresses Glycolysis and Malignant Progression in Breast Cancer via the IGF1R-MAPK Signaling Pathway.

    Annals of clinical and laboratory science·2026
    Same journal

    Network Pharmacology and <i>in vitro</i> Experimental Validation Reveal the Anticancer Mechanisms of Cichoric Acid in Cervical Cancer.

    Annals of clinical and laboratory science·2026
    See all related articles
    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

    Area of Science:

    • Biochemistry
    • Genetics
    • Hematology

    Background:

    • Metabolic diseases encompass a range of genetic disorders affecting biochemical pathways.
    • Enzyme deficiencies are central to the pathophysiology of many inherited metabolic conditions.
    • Hematologic aberrations can be significant clinical manifestations of metabolic diseases.

    Purpose of the Study:

    • To investigate the spectrum of enzyme deficiencies in various metabolic diseases.
    • To identify and characterize hematologic aberrations associated with these disorders.
    • To provide a comprehensive overview of metabolic diseases affecting amino acid, lipid, and carbohydrate metabolism, as well as mucopolysaccharidosis.

    Main Methods:

    • Review of literature on metabolic diseases and associated enzyme deficiencies.

    Related Experiment Videos

  • Analysis of case studies and clinical data reporting hematologic findings.
  • Classification of metabolic disorders based on affected metabolic pathways.

    • Main Results:

    • Detailed description of enzyme deficiencies in amino acidopathies, lipid storage diseases, albinism, carbohydrate metabolism disorders, and mucopolysaccharidoses.
    • Identification of common and specific hematologic abnormalities, such as anemia, thrombocytopenia, and altered coagulation parameters.
    • Correlation of specific enzyme defects with distinct hematologic presentations.

    Conclusions:

    • Enzyme deficiencies in metabolic diseases frequently lead to significant hematologic aberrations.
    • Understanding these enzyme defects and their hematologic consequences is crucial for diagnosis and management.
    • This review consolidates knowledge on the interplay between metabolic dysfunction and blood disorders.