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Tay-Sachs disease, B variant, adult form

MedGen UID:
336450
•Concept ID:
C1848914
•
Disease or Syndrome
Synonyms: Chronic and Adult-Onset Hexosaminidase A Deficiency; Hexosaminidase A deficiency, adult type
 
Monarch Initiative: MONDO:0017726
OMIM®: 272800
Orphanet: ORPHA309192

Recent clinical studies

Diagnosis

Usefulness of 4-methylumbelliferyl-6-sulfo-2-acetamido-2-deoxy-beta-D-glucopyrano sid e for the diagnosis of GM2 gangliosidoses in leukocytes.
Inui K, Wenger DA
Clin Genet 1984 Oct;26(4):318-21. doi: 10.1111/j.1399-0004.1984.tb01066.x. PMID: 6238730

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    • GTR
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    • GTR(Clinical)
      Clinical tests in GTR
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