Llwytho...
Aromatic L‐amino acid decarboxylase deficiency in 17 Mainland China patients: Clinical phenotype, molecular spectrum, and therapy overview
BACKGROUND: Aromatic L‐amino acid decarboxylase deficiency (AADCD) is a rare, autosomal recessive inherited disorder which is characterized by neurological and vegetative symptoms. To date, only 130 patients with AADCD have been reported worldwide. METHODS: We demonstrated 14 previously undescribed...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Genet Genomic Med |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
John Wiley and Sons Inc.
2020
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057092/ https://ncbi.nlm.nih.gov/pubmed/31975548 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1143 |
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