Diego Martinelli
El.En. Group (Italy)(IT)Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia(IT)Bambino Gesù Children's Hospital(IT)Istituti di Ricovero e Cura a Carattere Scientifico(IT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Amino Acid Enzymes and Metabolism, RNA modifications and cancer
Most-Cited Works
- → Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia(2014)703 cited
- → Suggested guidelines for the diagnosis and management of urea cycle disorders(2012)619 cited
- → Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision(2019)449 cited
- → Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision(2021)258 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation(2015)246 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited