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Article

Substrate deprivation therapy in juvenile Sandhoff disease.

Journal of inherited metabolic disease - 1 Dec 2009

Wortmann S B, Lefeber D J, Dekomien G, Willemsen M A A P, Wevers R A, Morava E

Abstract excerpt

Substrate deprivation therapy has been successfully applied in a number of lysosomal storage diseases, such as Gaucher disease. So far only limited experience is available in Sandhoff disease. We initiated substrate deprivation therapy in one male patient, who initially presented at the age of 3....

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Source

Identifiers

PMID: 19898952
DOI: 10.1007/s10545-009-1261-2

Genes

HEXB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19898952-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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