Jaime Campistol-Plana

Barcelona, CT, Spain

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 28 publications

Issues with European guidelines for phenylketonuria - Authors' reply.

Issues with European guidelines for phenylketonuria - Authors' reply.

Journal: The lancet. Diabetes & endocrinology

Published: May 15, 2017

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Journal: Human mutation

Published: November 22, 2016

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Key European guidelines for the diagnosis and management of patients with phenylketonuria.

Journal: The lancet. Diabetes & endocrinology

Published: June 20, 2016

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Journal: PloS one

Published: March 14, 2016

Selective elimination of mitochondrial mutations in the germline by genome editing.

Selective elimination of mitochondrial mutations in the germline by genome editing.

Journal: Cell

Published: February 02, 2015

Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.

Erratum to: 12th international congress of inborn errors of metabolism, 3rd-6th September, 2013.

Journal: Journal of inherited metabolic disease

Published: August 29, 2014

12th International Congress of Inborn Errors of Metabolism, 3rd-6th September, 2013.

12th International Congress of Inborn Errors of Metabolism, 3rd-6th September, 2013.

Journal: Journal of inherited metabolic disease

Published: June 27, 2014

Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units

Treatment and control of patients with phenylketonuria: results from the Collaborative Group of Spanish Follow-up Units

Journal: Medicina clinica

Published: January 10, 2011

Neurological dysfunction induced by bilirrubin

Neurological dysfunction induced by bilirrubin

Journal: Neurologia (Barcelona, Spain)

Published: March 22, 2010

Inborn errors of metabolism with neurological manifestations in the neonatal period

Inborn errors of metabolism with neurological manifestations in the neonatal period

Journal: Medicina

Published: April 22, 2008

Newborn neurometabolic diseases as a cause of neurodevelopmental disorders

Newborn neurometabolic diseases as a cause of neurodevelopmental disorders

Journal: Revista de neurologia

Published: May 25, 2007

Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease

Cerebral creatine transporter deficiency: an infradiagnosed neurometabolic disease

Journal: Revista de neurologia

Published: March 27, 2007

Showing 1-12 of 28

Last Updated: 09/26/2026