HH17
Presentation
Entire Body System
- Gaucher Disease
The Journal of Clinical Endocrinology & Metabolism 105 (7), 2119-2131, 2020 52020Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease J Harvengt, C Wanty, B De Paepe, C Sempoux, N Revencu, J Smet [scholar.google.be]
Prognosis
142015Phenotype-genotype correlation in children with neurofibromatosis type 1 C Barrea, S Vaessen, S Bulk, J Harvengt, JP Misson Neuropediatrics, 2018 72018ROHHAD (NET) syndrome: systematic review of the clinical timeline and recommendations for diagnosis and prognosis [scholar.google.be]