论文信息 - A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. - 字舞流文

A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis.

B. Cormand | M. Ribasés | A. Ormazabal | R. Artuch | À. García‐Cazorla | B. Pérez-Dueñas | E. Fernández-Álvarez | J. Campistol | M. Serrano | B. Pérez‐Dueñas | Sandra Pahisa | À. García-Cazorla