Longo, Nicola

Top Publications

Top Publications Authored or Co-Authored by "Longo, Nicola"

• Treatment of Fabry's disease with the pharmacologic chaperone migalastat

  New England Journal of Medicine, Volume 375, No. 6, Year 2016, Citations 363
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  Journal of Pediatrics, Volume 239, Year 2021, Citations 100
• Diversity of approaches to classic galactosemia around the world: A comparison of diagnosis, intervention, and outcomes

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 74
• Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency

  Journal of Inherited Metabolic Disease, Volume 44, No. 1, Year 2021, Citations 45