Filtered By:
Condition: Rare Diseases
Countries: Japan Health
This page shows you your search results in order of relevance.
Order by Relevance | Date
Total 1 results found since Jan 2013.
Genotype-Phenotype Correlation in Congenital TTP: New Insights from a Multicentre Study with 121 Patients
Conclusion: At present, the Hereditary TTP Registry is the largest cohort on cTTP, to our knowledge. The large number of different mutations as well as confounding factors, including multi-ethnic and geographical factors in our internationally compiled patient cohort make unravelling the genotype-phenotype correlation in cTTP challenging. Yet, for c.4143_4144dupA, we can conclude that homozygous patients with ADAMTS13 c.4143_4144dupA are clinically less severely affected than compound heterozygotes due to the later onset of the disease in homozygotes, whereas the clinical characteristics are similar between compound hetero...
Source: Blood - November 21, 2018 Category: Hematology Authors: Van Dorland, A. A., Mansouri Taleghani, M., Friedman, K. D., George, J., Hrachovinova, I., Knobl, P., Lammle, B., Matsumoto, M., von Krogh, A. S., Schneppenheim, R., Aebi-Huber, I., Lukas, B., Cermakova, Z., Quist-Paulsen, P., Terrell, D., Vesely, S. K., Tags: 311. Disorders of Platelet Number or Function: Advances in the Treatment of TTP and HIT Source Type: research
