Concepedia

A female case of aromatic l-amino acid decarboxylase deficiency responsive to MAO-B inhibition

Karin Kojima, Rie Anzai, Chihiro Ohba, Tomohide Goto, Akihiko Miyauchi, Beat Thöny, Hirotomo Saitsu, Naomichi Matsumoto, Hitoshi Osaka, Takanori Yamagata

Brain and Development · 2016 · 12 citations · 8 references

DOI

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References

8

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 474 citations

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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

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Aromatic <scp>l</scp>‐amino acid decarboxylase deficiency: clinical features, drug therapy and follow‐up

C. Manegold, Georg F. Hoffmann, Ingrid Degen et al. · Journal of Inherited Metabolic Disease · 2009 · 112 citations

, , +11

AromaticL-amino acid decarboxylase deficiency: Overview of clinical features and outcomes

Kathryn J. Swoboda, J. Philip Saul, Catherine E. McKenna et al. · Annals of Neurology · 2003 · 111 citations

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Open conformation of human DOPA decarboxylase reveals the mechanism of PLP addition to Group II decarboxylases

Giorgio Giardina, Riccardo Montioli, Stefano Gianni et al. · Proceedings of the National Academy of Sciences · 2011 · 103 citations · Full text

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