Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variants

Pathogenic variants in DHDDS have been associated with either autosomal recessive retinitis pigmentosa or DHDDS-CDG. Heterozygous variants in DHDDS have been described in patients with a progressive neurodegenerative disease. Here we report on an individual presenting with a multisystem CDG phenotyp...

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Detalles Bibliográficos
Autores principales: Mousa, Jehan, Veres, Larissa, Mohamed, Anab, De Graef, Diederik, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9421445/
https://www.ncbi.nlm.nih.gov/pubmed/36046393
http://dx.doi.org/10.1016/j.ymgmr.2022.100901

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