Family case of aromatic L-amino acid decarboxylase deficiency

Family case of aromatic L-amino acid decarboxylase deficiency

Aromatic L‑amino acid decarboxylase (AADC) deficiency is rare autosomal recessive neurometabolic disorder. It caused by generalized combined deficiency of serotonin, dopamine, norepinephrine and adrenaline. This disorder is characterized by muscular hypotonia, motor development delay, oculogyric cri...

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Bibliographic Details
Main Authors: O. B. Kondakova, K. A. Kazakova, A. A. Lyalina, N. V. Lapshina, A. A. Pushkov, N. N. Mazanova, Yu. I. Davydova, D. I. Grebenkin, I. V. Kanivets, K. V. Savostyanov
Format: Article
Language:Russian
Published: ABV-press 2022-12-01
Series:Нервно-мышечные болезни
Subjects:
дефицит декарбоксилазы ароматических l‑аминокислот
декарбоксилаза ароматических l‑аминокислот
окулогирные кризы
мышечная гипотония
мышечная дистония
3‑о‑метилдофамин
пиридоксаль‑5‑фосфат
апстаза
Online Access:https://nmb.abvpress.ru/jour/article/view/511

Internet

https://nmb.abvpress.ru/jour/article/view/511

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