Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patients

Abstract Classical galactosemia (CG) is an autosomal recessive disorder of galactose metabolism. Despite early initiation of a galactose‐restricted diet, patients develop long‐term complications including cognitive impairment. There is an ongoing debate whether the cognitive impairment in CG is stab...

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Autores principales:	Merel E. Hermans, Gert J. Geurtsen, Carla E. M. Hollak, Annet M. Bosch
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2024-03-01
Colección:	JIMD Reports
Materias:	cognitive change cognitive functioning galactosemia GALT‐deficiency neuropsychology progression
Acceso en línea:	https://doi.org/10.1002/jmd2.12410
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