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Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene
Glutaric aciduria type 1 (GA1) is caused by a deficiency of the enzyme glutaryl CoA dehydrogenase. It generally presents with developmental delay, dystonia, and large head. We are reporting siblings of GA1, presenting with an atypical phenotype with novel pathogenic variant. Thirteen-year-old boy pr...
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| Publicat a: | J Pediatr Neurosci |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Wolters Kluwer - Medknow
2021
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8276965/ https://ncbi.nlm.nih.gov/pubmed/34316315 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/jpn.JPN_63_20 |
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