The very rare, inherited blood clotting disorder called cTTP is caused by a disease-causing mutation in the ADAMTS13 gene, which is responsible for making an enzyme, also named ADAMTS13, that regulates blood clotting. A deficiency in this enzyme causes blood clots to...
Factor VIII, has helped patients with the bleeding disorder haemophilia A. Decades of research have defined the impact of ADAMTS13 deficiency on blood clotting, and a century on, Moschcowitz’s observations are potentially translating into promise for patients in ...
The very rare, inherited blood clotting disorder called cTTP is caused by a disease-causing mutation in the ADAMTS13 gene, which is responsible for making an enzyme, also named ADAMTS13, that regulates blood clotting. A deficiency in this enzyme causes blood clots to form in the...
ADAMTS13, Plasma exchange, Congenital TTPWe report a case of a 16-year-old female who presented with bleeding diathesis. Peripheral blood film examination was consistent with microangiopathic hemolytic anemia with 7% fragmented red blood cells. The ADAMTS13 level was 40 ng/ml (reference range: ...
4, there are no approved treatments that can slow or stop disease progression for other forms of NCL disorder. As NCL affects the brain and nervous system, treatments must reach the brain to be effective, but getting the proper enzyme to cross the blood brain barrier can be difficult. For ...
sensory neuropathy IV (HMSN IV), is a rare inherited disorder characterized by defective peroxisomal alpha oxidation of the fatty acids. This defect impairs the metabolism of branched chain fatty acids like phytanic acid (Phyt) and, as a consequence, Phyt accumulates in the blood and other ...
In proof-of-concept experiments, University of Alabama at Birmingham researchers have highlighted a potential therapy for a rare but potentially deadly blood-clotting disorder, TTP. The researchers deliver this therapeutic enzyme via the cellular equival
Cerebellar agen- esis has been found associated with gene mutations, such as PTF1A [10], or as a secondary disorder following conditions such as prematurity [9] or pre/perinatal hemorrhage [7]. Given the high mortality rate, few and inconsistent behavioral data are available from living ...
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Blood film says it all! Rare case of congenital TTP misdiagnosed as ITP.doi:10.1016/J.IJPAM.2019.02.005Ayesha Majeed MemonNatasha AliKing Faisal Specialist Hospital and Research Centre