Publications by authors named "Alberto Ponzone"

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Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
Francesco Porta, Sara Giorda, Alberto Ponzone, Marco Spada

J Pediatr Endocrinol Metab· December 2020

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Neonatal phenylalanine wash-out in phenylketonuria.
Francesco Porta, Alberto Ponzone, Marco Spada

Metab Brain Dis· October 2020

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Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.
Francesco Porta, Alberto Ponzone, Marco Spada

Eur J Paediatr Neurol· September 2020

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Neonatal screening for biotinidase deficiency: A 30-year single center experience.
Francesco Porta, Veronica Pagliardini, Isabella Celestino, Enza Pavanello, Severo Pagliardini, Alberto Ponzone

Mol Genet Metab Rep· December 2017

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Early Screening for Tetrahydrobiopterin Responsiveness in Phenylketonuria.
Francesco Porta, Marco Spada, Alberto Ponzone

Pediatrics· August 2017

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Long-term safety and effectiveness of pramipexole in tetrahydrobiopterin deficiency.
Francesco Porta, Alberto Ponzone, Marco Spada

Eur J Paediatr Neurol· November 2016

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Genealogy of breastfeeding.
Francesco Porta, Alessandro Mussa, Giuseppina Baldassarre, Vittorio Perduca, Daniele Farina, Alberto Ponzone

Eur J Pediatr· January 2016

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Target Prolactin Range in Treatment of Tetrahydrobiopterin Deficiency.
Francesco Porta, Alberto Ponzone, Marco Spada

J Pediatr· January 2016

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Short prolactin profile for monitoring treatment in BH4 deficiency.
Francesco Porta, Alberto Ponzone, Marco Spada

Eur J Paediatr Neurol· May 2015

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Newborn screening for galactosemia: a 30-year single center experience.
Francesco Porta, Severo Pagliardini, Veronica Pagliardini, Alberto Ponzone, Marco Spada

World J Pediatr· May 2015

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Dopamine agonists in dihydropteridine reductase deficiency.
Francesco Porta, Alessandro Mussa, Daniela Concolino, Marco Spada, Alberto Ponzone

Mol Genet Metab· April 2012

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Analgesic techniques in minor painful procedures in neonatal units: a survey in northern Italy.
Luigi Codipietro, Elena Bailo, Marco Nangeroni, Alberto Ponzone, Giuseppe Grazia

Pain Pract· February 2012

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Tetrahydrobiopterin and phenylketonuria.
Francesco Porta, Marco Spada, Davide Garelli, Alessandro Mussa, Alberto Ponzone

J Pediatr· May 2011

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Breastfeeding effects on newborn screening.
Francesco Porta, Alessandro Mussa, Alberto Ponzone

J Pediatr· June 2010

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Unresponsiveness to tetrahydrobiopterin of phenylalanine hydroxylase deficiency.
Alberto Ponzone, Francesco Porta, Alessandro Mussa, Alessandra Alluto, Silvio Ferraris

Metabolism· May 2010

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In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31).
Alberto Ponzone, Alessandro Mussa, Francesco Porta

J Inherit Metab Dis· August 2009

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HDR syndrome: a novel "de novo" mutation in GATA3 gene.
Silvio Ferraris, Angelo Giovanni Del Monaco, Emanuela Garelli, Adriana Carando, Barbara De Vito, Alberto Ponzone

Am J Med Genet A· February 2009

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Breastfeeding or oral sucrose solution in term neonates receiving heel lance: a randomized, controlled trial.
Luigi Codipietro, Manuela Ceccarelli, Alberto Ponzone

Pediatrics· September 2008

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Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria.
Alberto Ponzone, Marco Spada, Luca Roasio, Francesco Porta, Alessandro Mussa

J Pediatr Gastroenterol Nutr· May 2008

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Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Leandra Jäggi, Marcel R Zurflüh, Agnes Schuler, Alberto Ponzone, Francesco Porta

Mol Genet Metab· March 2008

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High incidence of later-onset fabry disease revealed by newborn screening.
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Alberto Ponzone

Am J Hum Genet· July 2006

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Dihydropteridine reductase deficiency in man: from biology to treatment.
Alberto Ponzone, Marco Spada, Silvio Ferraris, Irma Dianzani, Luisa de Sanctis

Med Res Rev· March 2004

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Tetrahydrobiopterin and mild phenylketonuria.
Alberto Ponzone, Antonella Peduto, Marco Spada

N Engl J Med· April 2003

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Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.
Luca Dello Strologo, Elon Pras, Claudia Pontesilli, Ercole Beccia, Vittorino Ricci-Barbini, Alberto Ponzone

J Am Soc Nephrol· October 2002

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