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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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Elsevier
2022-09-01
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| Serie: | Molecular Genetics and Metabolism Reports |
| Soggetti: | |
| Accesso online: | http://www.sciencedirect.com/science/article/pii/S2214426922000611 |
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