Alberto Burlina

41PUBLICATIONS
120CO-AUTHORS
Infant and child healthMedical biochemistry - amino acids and metabolitesWomen's studies (incl. girls' studies)Neurology and neuromuscular diseasesDevelopmental genetics (incl. sex determination)
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Publications (41)

|Jul 15, 2026
How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 Pregnancies.

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

|Feb 20, 2026
Short-Term Intensive Avalglucosidase Alfa Regimen in Late-Diagnosed Infantile Pompe Disease: A Case Report.

Vincenza Gragnaniello, Alice Pozza, Chiara Cazzorla

|Feb 06, 2026
A Meta-Analysis to Unveil the Diagnostic Gaps in Anderson-Fabry Disease in Women.

L Lenzini, G Pintus, G Gugelmo

|Jan 28, 2026
The First 1000 Days of PKU: A Narrative Review of Maternal PKU and Early Life Management After Positive Newborn Screening.

Elvira Verduci, Martina Tosi, Juri Zuvadelli

|Dec 26, 2025
DNAJC12 Disease: Clinical Spectrum and Long-Term Outcomes.

Filippo Manti, Giacomina Ricciardi, Francesca Nardecchia

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Frequent Collaborators

5 joint publications

Giulia Polo

5 joint publications

Alessandro P Burlina

5 joint publications

Elena Porcù

4 joint publications

Christian Loro