Deficiencia de holocarboxilasa sintetasa de presentación tardía con actividad piruvato carboxilasa normal

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Delayed onset holocarboxylase synthetase deficiency with normal pyruvate carboxylase activity

I. Vitoriaa,

Corresponding author

vitoria_isi@gva.es

Autor para correspondencia.

, D. Rausellb, I. Gonzálezc, C. Pérez-Cerdád, J. Dalmaua

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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ISSN: 16954033
Original language: Spanish

DOI:10.1016/j.anpedi.2013.05.035

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