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Monoamine metabolism study in severe, early-onset epilepsy in childhood Volume 10, numéro 2, June 2008

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Hoffmann et al., 2007 Hoffmann GF, Schmitt B, Windfuhr M, et al. Pyridoxal 5’-phosphate may be curative in early-onset epileptic encephalopathy. J Inherit Metab Dis 2007; 30: 96-9.

Hyland, 2006 Hyland K. Cerebrospinal fluid analysis in the diagnosis of treatable inherited disorders of neurotransmitter metabolism. Future Neurology 2006; 1: 593-603.

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Neville, 2007 Neville BGR. Congenital Dopa-responsive disorders: a diagnostic and therapeutic challenge to the cerebral palsies? Dev Med Child Neurol 2007; 49: 85.

Pearl et al., 2006 Pearl PL, Hartka TR, Taylor J. Diagnosis and treatment of neurotransmitter disorders. Curr Treat Options Neurol 2006; 8: 441-50.

Pons et al., 2004 Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: Clinical features, treatment, and prognosis. Neurology 2004; 62: 1058-65.

Ruiz et al., 2008 Ruiz A, Garcia-Villoria J, Ormazabal A, et al. A new fatal case of pyridox(am)ine 5’-phosphate oxydase (PNPO) deficiency. Mol Genet Metab 2008; 93: 216-8.

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Segawa et al., 2004 Segawa M, Nomura Y, Yukishita S, et al. Is phenotypic variation of hereditary progressive dystonia with marked diurnal fluctuation/Dopa-responsive dystonia (HPD/DRD) caused by the difference of the locus of mutation on the GTP Cyclohydrolase (GCH-1) gene? In: Fahn S, Hallett M, DeLong MR, eds. Dystonia 4: Advances in Neurology. Philadelphia: Lippincott Williams & Wilkins, 2004: 217-23.

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