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Publications by Vincenzo Leuzzi
Issues With European Guidelines for Phenylketonuria – Authors' Reply
The Lancet Diabetes and Endocrinology
Internal Medicine
Endocrinology
Metabolism
Diabetes
TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype
European Journal of Human Genetics
Genetics
Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of Phenylketonuria
Frontiers in Neuroscience
Neuroscience
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration
Frontiers in Genetics
Genetics
Molecular Medicine
A Nervous System-Specific Model of Creatine Transporter Deficiency Recapitulates the Cognitive Endophenotype of the Disease: A Longitudinal Study
Scientific Reports
Multidisciplinary
Newborn Screening for Homocystinurias: Recent Recommendations Versus Current Practice
Journal of Inherited Metabolic Disease
Genetics
Adult Cognitive Outcomes in Phenylketonuria: Explaining Causes of Variability Beyond Average Phe Levels
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Efficacy, Safety and Population Pharmacokinetics of Sapropterin in PKU Patients <4 Years: Results From the SPARK Open-Label, Multicentre, Randomized Phase IIIb Trial
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Succesfull Pregnancy in a Patient With L-Amino Acid Decarboxylase Deficiency: Therapeutic Management and Clinical Outcome
Movement Disorders Clinical Practice
Neurology
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