Heterozygous pathogenic variant in GCH1 associated with treatable severe spastic tetraplegia: Expert opinion

Heterozygous pathogenic variant in GCH1 associated with treatable severe spastic tetraplegia: Expert opinion

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Veröffentlicht in:Parkinsonism & related disorders 2023-04, Vol.109, p.105370, Article 105370
1. Verfasser: Salles, Philippe A.
Format: Artikel
Sprache:eng
Schlagworte:
GTP Cyclohydrolase - metabolism
Heterozygote
Humans
Mutation
Quadriplegia - etiology
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source MEDLINE; Elsevier ScienceDirect Journals
subjects GTP Cyclohydrolase - metabolism
Heterozygote
Humans
Mutation
Quadriplegia - etiology
title Heterozygous pathogenic variant in GCH1 associated with treatable severe spastic tetraplegia: Expert opinion
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