Annamaria Sapuppo

10PUBLICATIONS
24CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsInfant and child healthNeonatologyMedical biochemistry - amino acids and metabolites
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Publications (10)

|May 27, 2026
WWOX-Related Epileptic Encephalopathy (WOREE Syndrome): Clinical Case Study and Literature Review.

|Apr 10, 2026
Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics® platform.

Annamaria Sapuppo, Grete Francesca Privitera, Vincenzo Sortino

|Nov 27, 2025
Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Raffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo

|Feb 26, 2025
Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Guido Leone, Concetta Meli, Raffaele Falsaperla

|Feb 13, 2025
Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Maria Chiara Consentino, Luisa La Spina, Concetta Meli

|Jun 26, 2024
Obesity as a Confounding Factor in the Diagnosis of Wilson's Disease: Case Report of Two Siblings with the Same Genotype but Different Clinical Courses.

Emanuele Bracciamà, Annamaria Sapuppo, Laura Rapisarda

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Frequent Collaborators

3 joint publications

Alessia Arena

2 joint publications

Rita Barone

2 joint publications

Vincenzo Sortino

2 joint publications

Raffaele Falsaperla