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European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects
Francesco Porta, Alberto Ponzone, Marco Spada
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 10, 2023
Restless legs syndrome in DNAJC12 deficiency
Francesco Porta, Alessandro Neirotti, Marco Spada
Ultrasound in Medicine & Biology
|
March 4, 2008
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study
Francesco Porta, Marco Spada, Roberto Lala, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 8, 2019
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
Francesco Porta, Nicoletta Chiesa, Diego Martinelli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 13, 2021
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
Francesco Porta, Sara Giorda, Alberto Ponzone, et al.
Journal of Inherited Metabolic Disease
|
October 10, 2025
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives
Andrea Pietrobattista, Diego Martinelli, Marco Spada, et al.
World Journal of Gastroenterology
|
February 18, 2009
Pediatric liver transplantation
Marco Spada, Silvia Riva, Giuseppe Maggiore, et al.
Molecular Genetics and Metabolism
|
February 14, 2012
Dopamine agonists in dihydropteridine reductase deficiency
Francesco Porta, Alessandro Mussa, Daniela Concolino, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 10, 2019
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism
Francesco Porta, Renato Romagnoli, Marta Busso, et al.
World Journal of Pediatrics : WJP
|
March 11, 2015
Newborn screening for galactosemia: a 30-year single center experience
Francesco Porta, Severo Pagliardini, Veronica Pagliardini, et al.
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of 25
Search research articles
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Showing results (11-20 of 243) with videos related to
Sort By:
Page
of 25
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects
Francesco Porta, Alberto Ponzone, Marco Spada
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
March 10, 2023
Restless legs syndrome in DNAJC12 deficiency
Francesco Porta, Alessandro Neirotti, Marco Spada
Ultrasound in Medicine & Biology
|
March 4, 2008
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study
Francesco Porta, Marco Spada, Roberto Lala, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 8, 2019
Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature
Francesco Porta, Nicoletta Chiesa, Diego Martinelli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 13, 2021
Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria
Francesco Porta, Sara Giorda, Alberto Ponzone, et al.
Journal of Inherited Metabolic Disease
|
October 10, 2025
The Evolving Trend of Liver Transplantation in Metabolic Diseases: From Origins to Current Perspectives
Andrea Pietrobattista, Diego Martinelli, Marco Spada, et al.
World Journal of Gastroenterology
|
February 18, 2009
Pediatric liver transplantation
Marco Spada, Silvia Riva, Giuseppe Maggiore, et al.
Molecular Genetics and Metabolism
|
February 14, 2012
Dopamine agonists in dihydropteridine reductase deficiency
Francesco Porta, Alessandro Mussa, Daniela Concolino, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
April 10, 2019
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism
Francesco Porta, Renato Romagnoli, Marta Busso, et al.
World Journal of Pediatrics : WJP
|
March 11, 2015
Newborn screening for galactosemia: a 30-year single center experience
Francesco Porta, Severo Pagliardini, Veronica Pagliardini, et al.
Page
of 25