Neuropediatrics

• 

  Publication Venue For

  • Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy..  53:432-435. 2022
  • Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene..  52:475-479. 2021
  • Spontaneous intrauterine "ping-pong" fracture: review and case illustration..  40:73-75. 2009