Nicola Longo

13PUBLICATIONS
102CO-AUTHORS
Predictive and prognostic markersMedical biochemistry - amino acids and metabolitesInfant and child healthClinical nutritionNeurogenetics
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Publications (13)

|Jun 12, 2026
A progeria syndrome links DNA hypermethylation to age-related pathology.

|Jun 06, 2026
Management of acute metabolic decompensation in maple syrup urine disease: guidance based on international clinical practice.

|Apr 27, 2026
Disease Burden and Pharmacological Treatment Patterns in Children and Adults With Phenylketonuria: A Real-World Matched Cohort Study.

|Oct 07, 2024
Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency.

Zahra Nasseri Moghaddam, Emily K Reinhardt, Audrey Thurm

|Jul 26, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

|Apr 27, 2024
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

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Frequent Collaborators

2 joint publications

Rajesh Angireddy

2 joint publications

Wendy K Chung

2 joint publications

Irene Valenzuela

2 joint publications

Roberto Mendoza-Londono