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Compound Heterozygosis in AADC Deficiency and Its Complex Phenotype in Terms of AADC Protein Population
Aromatic amino acid decarboxylase (AADC) deficiency is a rare monogenic disease due to mutations in the ddc gene producing AADC, a homodimeric pyridoxal 5′-phosphate-dependent enzyme. The disorder is often fatal in the first decade and is characterized by profound motor impairments and developmental...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570296/ https://www.ncbi.nlm.nih.gov/pubmed/36232540 http://dx.doi.org/10.3390/ijms231911238 |