Schiff, Manuel

Top Publications

Top Publications Authored or Co-Authored by "Schiff, Manuel"

• Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

  Molecular Genetics and Metabolism, Volume 118, No. 3, Year 2016, Citations 70
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

  Genetics in Medicine, Volume 25, No. 6, Article 100314, Year 2023, Citations 61
• 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
• Early-onset hyperargininaemia: A severe disorder?

  Journal of Inherited Metabolic Disease, Volume 32, No. SUPPL. 1, Year 2009, Citations 12