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Aromatic Amino Acid Decarboxylase Deficiency Not Responding to Pyridoxine and Bromocriptine Therapy: Case Report and Review of Response to Treatment
Aromatic L-amino acid decarboxylase (AADC) deficiency (MIM #608643) is an autosomal recessive inborn error of monoamines. It is caused by a mutation in the DDC gene that leads to a deficiency in the AADC enzyme. The clinical features of this condition include a combination of dopamine, noradrenaline...
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| Huvudupphovsmän: | , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
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Libertas Academica
2014
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| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3891626/ https://ncbi.nlm.nih.gov/pubmed/24453523 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4137/JCNSD.S12938 |
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