Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42 countries, and highlight an evolving phenotypic s...
| প্রধান লেখক: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| বিন্যাস: | প্রবন্ধ |
| ভাষা: | English |
| প্রকাশিত: |
Nature Portfolio
2021-09-01
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| মালা: | Nature Communications |
| অনলাইন ব্যবহার করুন: | https://doi.org/10.1038/s41467-021-25515-5 |