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Healthcare (Basel, Switzerland)
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November 27, 2021
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, et al.
Metabolic Brain Disease
|
July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiency
Marta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Italian Journal of Pediatrics
|
March 29, 2022
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
Valentina Rovelli, Juri Zuvadelli, Marta Piotto, et al.
Molecular Genetics and Metabolism Reports
|
April 28, 2021
PKU and COVID19: How the pandemic changed metabolic control
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
Iris Scala, Lucia Brodosi, Daniela Gueraldi, et al.
Molecular Genetics and Metabolism
|
February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
Alvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.
Endocrinology, Diabetes & Metabolism
|
December 20, 2022
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 27, 2021
Rare crested rat subfossils unveil Afro-Eurasian ecological corridors synchronous with early human dispersals
Ignacio A Lazagabaster, Valentina Rovelli, Pierre-Henri Fabre, et al.
Molecular Genetics and Metabolism
|
July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Frontiers in Medicine
|
March 19, 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Karolina M Stepien, Beata Kieć-Wilk, Christina Lampe, et al.
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Search research articles
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Showing results (11-20 of 22) with videos related to
Sort By:
Page
of 3
Healthcare (Basel, Switzerland)
|
November 27, 2021
Telehealth and COVID-19: Empowering Standards of Management for Patients Affected by Phenylketonuria and Hyperphenylalaninemia
Valentina Rovelli, Juri Zuvadelli, Sabrina Paci, et al.
Metabolic Brain Disease
|
July 4, 2019
Novel mutations in two unrelated Italian patients with SSADH deficiency
Marta Balzarini, Valentina Rovelli, Sabrina Paci, et al.
Italian Journal of Pediatrics
|
March 29, 2022
L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report
Valentina Rovelli, Juri Zuvadelli, Marta Piotto, et al.
Molecular Genetics and Metabolism Reports
|
April 28, 2021
PKU and COVID19: How the pandemic changed metabolic control
Valentina Rovelli, Juri Zuvadelli, Vittoria Ercoli, et al.
Molecular Genetics and Metabolism
|
March 24, 2024
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights
Iris Scala, Lucia Brodosi, Daniela Gueraldi, et al.
Molecular Genetics and Metabolism
|
February 28, 2026
Management of pegvaliase-related skin concerns: best practice recommendations using a modified Delphi approach
Alvaro Hermida Ameijeiras, Erika Vucko, Cary O Harding, et al.
Endocrinology, Diabetes & Metabolism
|
December 20, 2022
Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
July 27, 2021
Rare crested rat subfossils unveil Afro-Eurasian ecological corridors synchronous with early human dispersals
Ignacio A Lazagabaster, Valentina Rovelli, Pierre-Henri Fabre, et al.
Molecular Genetics and Metabolism
|
July 12, 2020
Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthase-deficient patients
Filippo Manti, Francesca Nardecchia, Giuseppe Banderali, et al.
Frontiers in Medicine
|
March 19, 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey
Karolina M Stepien, Beata Kieć-Wilk, Christina Lampe, et al.
Page
of 3