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Article

Natural History of SURF1 Deficiency: A Retrospective Chart Review.

Pediatric neurology - 1 Mar 2023

Khan Tuba Rashid, Leprince Inka, Messahel Souad, Minassian Berge A, Kayani Saima

Abstract excerpt

BACKGROUND: This retrospective chart review evaluated the clinical characteristics of SURF1-related neurological disease spectrum to better characterize the phenotypes. METHODS: Patient demographics, magnetic resonance imaging abnormalities, neurological events, motor abnormalities, and gastrointestinal and respiratory assistance were evaluated in 27 patients with genetically diagnosed SURF1 deficiency. RESULTS:...

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Identifiers

PMID: 36599233
DOI: 10.1016/j.pediatrneurol.2022.12.002

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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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