Tay-sachs disease, juvenile

MedGen UID:: 341333
•Concept ID:: C1848913
•: Disease or Syndrome

Synonym:	Tay-Sachs Disease, Juvenile

OMIM®:	272800; 606869

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PubMed

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population.

Andermann E, Scriver CR, Wolfe LS, Dansky L, Andermann F
Prog Clin Biol Res 1977;18:161-88. PMID: 601075

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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: 31519716 Free 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

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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: 36700853 Free PMC Article

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Tay-sachs disease, juvenile

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PubMed

Recent clinical studies

Diagnosis

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