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Article

Juvenile Batten disease: A diagnostic conundrum.

JAAPA : official journal of the American Academy of Physician Assistants - 1 Jun 2021

Niederer Kathryn

Abstract excerpt

ABSTRACT: This article describes the 6-year journey to diagnosis of twin girls with varying presentations of the same rare disease. Batten disease is a neurodegenerative disease caused by an autosomal recessive genetic mutation. In patients with juvenile Batten disease, the most common initial symptom is vision loss, and initial testing early in the disease process typically fails to find any indication of this...

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PMID: 34031314
DOI: 10.1097/01.JAA.0000750980.85777.01

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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