Original Breve
Deficiencia de holocarboxilasa sintetasa de presentación tardía con actividad piruvato carboxilasa normal
Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity
a Unidad de Nutrición y Metabolopatías, Hospital La Fe, Valencia, España
b Laboratorio Metabolopatías, Hospital La Fe, Valencia, España
c Unidad de Metabolopatías, Centro de Bioquímica y Genética, Hospital Universitario Virgen de la Arrixaca, Murcia, España
d Centro de Diagnóstico de Enfermedades Moleculares, Centros de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Universidad Autónoma de Madrid, Madrid, España
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