Alberto Ponzone
Turin, Italy
Last Updated: 09/26/2026
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Found 11 publications
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: May 29, 2020
Neonatal phenylalanine wash-out in phenylketonuria.
Journal: Metabolic brain disease
Published: January 13, 2020
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 02, 2019
Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Journal: Molecular genetics and metabolism reports
Published: July 20, 2017
Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Journal: Pediatrics
Published: December 19, 2016
Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 08, 2016
Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.
Journal: The Journal of pediatrics
Published: March 20, 2015
Short prolactin profile for monitoring treatment in BH4 deficiency.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 02, 2014
Newborn screening for galactosemia: a 30-year single center experience.
Journal: World journal of pediatrics : WJP
Published: May 01, 2014
Dopamine agonists in dihydropteridine reductase deficiency.
Journal: Molecular genetics and metabolism
Published: December 06, 2011
Showing 1-11 of 11
Last Updated: 09/26/2026