Concepedia

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

C. Manegold, Georg F. Hoffmann, Ingrid Degen, H Ikonomidou, A. Knust, Martin W. Laaß, M. Pritsch, Ekkehard Wilichowski, Friederike Hörster

Journal of Inherited Metabolic Disease · 2009 · 110 citations · 20 references

DOI

Abstract

AADC deficiency is a severe neurometabolic disorder, characterized by muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Medical treatment is challenging, but a systematic trial of the different drugs is worthwhile.

References

20

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Philippa B. Mills, Robert Surtees, M. P. Champion et al. · Human Molecular Genetics · 2005 · 307 citations · Full text

Aromatic L‐amino acid decarboxylase deficiency

Keith Hyland, Robert Surtees, Charles H. Rodeck et al. · Neurology · 1992 · 172 citations

Aromatic amino acid decarboxylase deficiency in twins

Peter T. Clayton · Journal of Inherited Metabolic Disease · 1990 · 113 citations

, , +3

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

Aromatic l-amino acid decarboxylase deficiency in Taiwan

Hsiu-Fen Lee, Chi‐Ren Tsai, Ching-Shiang Chi et al. · European Journal of Paediatric Neurology · 2008 · 88 citations

, , +2