Burlina, Alberto B.

Top Publications

Top Publications Authored or Co-Authored by "Burlina, Alberto B."

• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Tyrosine hydroxylase deficiency: A treatable disorder of brain catecholamine biosynthesis

  Brain, Volume 133, No. 6, Year 2010, Citations 196
• 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
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases

  Annals of Neurology, Volume 82, No. 6, Year 2017, Citations 58
• Eyes on MEGDEL: Distinctive basal ganglia involvement in dystonia deafness syndrome

  Neuropediatrics, Volume 46, No. 2, Year 2015, Citations 32