Á. Ruiz

A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency.

A. Ribes, A. Ormazabal, R. Artuch, 2008, Molecular genetics and metabolism.

Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient

F. Tort, A. Ribes, O. Ugarteburu, 2016, Pediatrics.

Pure partial trisomy 7q: two new patients and review.

L. Paisán, L. Rodríguez, Á. Ruiz, 2002, American journal of medical genetics.

[Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier].

B. Cormand, M. Ribasés, A. Ormazabal, 2006, Medicina clinica.

Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

Rafael Artuch, Aida Ormazabal, Keith Hyland, 2008, Molecular genetics and metabolism.