Aromatic l-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasma

Author:

Atwal Paldeep S.,Donti Taraka R.,Cardon Aaron L.,Bacino C.A.,Sun Qin,Emrick L.,Reid Sutton V.,Elsea Sarah H.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference9 articles.

1. Aromatic l-amino acid decarboxylase deficiency: clinical features, diagnosis, and treatment of a new inborn error of neurotransmitter amine synthesis;Hyland;Neurology,1992

2. When do we need to perform a diagnostic lumbar puncture for neurometabolic diseases? Positive yield and retrospective analysis from a tertiary center;Haliloglu;Turk. J. Pediatr.,2012

3. Gene therapy for aromatic l-amino acid decarboxylase deficiency;Hwu;Sci. Transl. Med.,2012

4. Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids;Hyland;J. Nutr.,2007

5. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism;Miller;J. Inherit. Metab. Dis.,2015

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