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Article

Different phenotypy in three siblings with homocystinuria.

The neurologist - 1 May 2009

Varlibas Figen, Cobanoglu Ozlem, Ergin Burcak, Tireli Hulya

Abstract excerpt

INTRODUCTION: Movement disorders associated with homocystinuria have been reported as rare cases. Their physiopathology has not yet been clarified. METHODS: Three siblings in the same family have been described, all with homocystinuria but possessing phenotypic differences. RESULT: The first case presented oromandibular dyskinesia, spasmodic dysphonia, tremor, bradykinesia, and generalized dystonia along with the...

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Identifiers

PMID: 19430269
DOI: 10.1097/NRL.0b013e318184a4c4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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