U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Tay-sachs disease, juvenile

MedGen UID:
341333
•Concept ID:
C1848913
•
Disease or Syndrome
Synonym: Tay-Sachs Disease, Juvenile
 
OMIM®: 272800; 606869

Recent clinical studies

Diagnosis

Unusual case of Juvenile Tay-Sachs disease.
Cheema HA, Waheed N, Saeed A
BMJ Case Rep 2019 Sep 12;12(9) doi: 10.1136/bcr-2019-230140. PMID: 31519716Free PMC Article
Early juvenile Tay-Sachs disease with atypical symptoms.
Sakurai M, Azuma J, Hamada Y, Yamamoto T, Sakai N
Pediatr Int 2019 Jun;61(6):611-613. doi: 10.1111/ped.13848. PMID: 31242539

Clinical prediction guides

Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
Han ST, Hirt A, Nicoli ER, Kono M, Toro C, Proia RL, Tifft CJ
J Inherit Metab Dis 2023 Jul;46(4):687-694. Epub 2023 Feb 5 doi: 10.1002/jimd.12596. PMID: 36700853Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...