Francesco Porta

9PUBLICATIONS
48CO-AUTHORS
Medical biochemistry - amino acids and metabolitesNeurology and neuromuscular diseasesInfant and child healthFood properties (incl. characteristics and health benefits)Epigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Jun 26, 2026
Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate.

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

Filippo Manti, Giacomina Ricciardi, Francesca Nardecchia

|Nov 29, 2025
Late-onset Pompe's disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm.

Marco Spada, Serena Gasperini, Massimiliano Filosto

|Apr 04, 2025
The wide phenotypic spectrum of thiamine metabolism dysfunction syndrome 5 and its treatment.

Alice Dallan, Giuseppe Reynolds, Carlotta Canavese

|Sep 16, 2024
Identification of Potential Clusters of Signs and Symptoms to Prioritize Patients' Eligibility for AADCd Screening by 3-OMD Testing: An Italian Delphi Consensus.

Carlotta Spagnoli, Roberta Battini, Filippo Manti

|Jul 15, 2023
Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Yılmaz Yıldız, Oya Kuseyri Hübschmann, Ayça Akgöz Karaosmanoğlu

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Frequent Collaborators

2 joint publications

Filippo Manti

1 joint publications

Yılmaz Yıldız

1 joint publications

Oya Kuseyri Hübschmann

1 joint publications

Ayça Akgöz Karaosmanoğlu