Ballhausen, Diana

Top Publications

Top Publications Authored or Co-Authored by "Ballhausen, Diana"

• Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

  Journal of Pediatrics, Volume 239, Year 2021, Citations 100
• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire

  Genetics in Medicine, Volume 24, No. 8, Year 2022, Citations 64
• Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity

  American Journal of Human Genetics, Volume 89, No. 6, Year 2011, Citations 32
• Hydroxylated residues influence desensitization behaviour of recombinant α3 glycine receptor channels

  Journal of Neurochemistry, Volume 83, No. 1, Year 2002, Citations 21
• Home infusion therapy for Pompe disease: Recommendations for German-speaking countries; [Heiminfusionstherapie bei Morbus Pompe: Konsensusempfehlungen für den deutschsprachigen Raum]

  Fortschritte der Neurologie Psychiatrie, Volume 89, No. 12, Year 2021