Diego Martinelli

11PUBLICATIONS
62CO-AUTHORS
Medical biochemistry - amino acids and metabolitesInfant and child healthNeurology and neuromuscular diseasesMajor global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)
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Publications (11)

|Sep 10, 2026
Distinct Urea Cycle Dysfunction Profiles Differentiate Acute Metabolic Decompensation in TMEM70 and MT-ATP6-Related Mitochondrial ATP Synthase Defects.

|Sep 10, 2026
Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition.

|Apr 02, 2026
Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

Alessandra Torraco, Charlotte L Alston, Giulia Barcia

|Nov 15, 2025
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Kajus Merkevicius, Dmitrii Smirnov, Lea D Schlieben

|Apr 10, 2025
Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients.

Cesar A P F Alves, Maria Camilla Rossi-Espagnet, Francisco Perez

|May 17, 2024
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.

Eleonora Manzoni, Sara Carli, Pauline Gaignard

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Frequent Collaborators

5 joint publications

Carlo Dionisi-Vici

4 joint publications

Barbara Siri

3 joint publications

Giulio Catesini

3 joint publications

Marco Spada