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Long-Term Management of Patients with Mild Urea Cycle Disorders Identified through the Newborn Screening: An Expert Opinion for Clinical Practice
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09/01/2024 |
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Micronutrient Deficiency in Inherited Metabolic Disorders Requiring Diet Regimen: A Brief Critical Review
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08/01/2024 |
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Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation
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11/07/2023 |
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Parents' experience of the communication process of positivity at newborn screening for metabolic diseases: A qualitative study
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27/06/2023 |
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Newborn screening for Pompe disease in Italy: Long-term results and future challenges
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06/04/2023 |
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Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient
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06/04/2023 |
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Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe
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23/03/2023 |
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A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes
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23/03/2023 |
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Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm
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21/03/2023 |
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Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
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21/03/2023 |