Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency-Reference-Cited by-同舟云学术

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Published:2017-01-18 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Wassenberg Tessa,Molero-Luis Marta,Jeltsch Kathrin,Hoffmann Georg F.,Assmann Birgit,Blau Nenad,Garcia-Cazorla Angeles,Artuch Rafael,Pons Roser,Pearson Toni S.,Leuzzi Vincenco,Mastrangelo Mario,Pearl Phillip L.,Lee Wang Tso,Kurian Manju A.,Heales Simon,Flint Lisa,Verbeek Marcel,Willemsen Michèl,Opladen Thomas

Funder

Dietmar Hopp Stiftung (DE)

AADC Research Trust (GB)

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-016-0522-z.pdf

Reference77 articles.

1. Hyland K, Clayton PT. Aromatic amino acid decarboxylase deficiency in twins. J Inherit Metab Dis. 1990;13(3):301–4.

2. Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64–71. doi: 10.1212/WNL.0b013e3181e620ae .