Genetic analyses of novel compound heterozygous hypodysfibrinogenemia, Tsukuba I: FGG c.1129+62_65 del AATA and FGG c.1299+4 del A [PDF]
Epub 2016 Nov 5Introduction: Wefound a novel hypodysfibrinogenemia designated Tsukuba I caused by compound heterozygous nucleotide deletionswith FGG c. 1129+ 62_ 65 del AATA and FGG c. 1299+ 4 del A on different alleles.
Arai, Shinpei +6 more
core +1 more source
EVALUACI 3N DEL EFECTO TRIPANOCIDA DEL VENENO DE CASCABEL (CROTALUS DURISSUS CUMANENSIS Y C. VEGANDRIS) SOBRE EL TRYPANOSOMA CRUZI EN CULTIVOS IN VITRO (MEDIO LIT) [PDF]
El inter\ue9s de realizar dicha investigaci\uf3n parte de lograr un m\ue9todo efectivo para disminuir la reproducci\uf3n del T. cruzi, el cual fue descubierto por el Dr. Carlos Chagas en el a\uf1o 1909.
Mogoll\uf3n Saldivia, Alexander A.
core
Splicing mutations: making sense with antisense therapy [PDF]
Tese de mestrado. Biologia (Biologia Molecular e Genética). Universidade de Lisboa, Faculdade de Ciências, 2012Galactose-1-phosphate uridylyltransferase (GALT) transfers a UMP group from UDP-glucose to Gal1P in the second step of the Leloir pathway for ...
Lourenço, Sílvia Pires, 1990-
core
Congenital Afibrinogenemia: Anaesthetic Implications of a Rare Inherited Coagulation Disorder
Congenital afibrinogenemia is a very rare inherited bleeding disorder that results from fibrinogen deficiency and is associated with bleeding manifestations of varying severity. A 21 Year-old, diagnosed case of congenital afibrinogenemia, was admitted to
Archana Kalaichelvam, Jui Lagoo
doaj
Glanzmann′s thrombasthenia: A case report and review
Glanzmann′s thrombasthenia (GT) is a rare autosomal recessive disorder and characterized by a lack of platelet aggregation due to the absence of platelet glycoprotein (GP) Ilb and Illa. Usually, the disease leads to mild hemorrhage but sometimes bleeding
Ajit D Dinkar +2 more
doaj +1 more source
Transfusion massive et coagulopathie-: physiopathologie et implications cliniques [PDF]
Purpose: To review the pathophysiology of coagulopathy in massively transfused, adult and previously hemostatically competent patients in both elective surgical and trauma settings, and to recommend the most appropriate treatment strategies.
Hardy, Jean-François +2 more
core
Early Diagnosis and Management of Congenital Afibrinogenemia: A Case Report of Umbilical Stump Bleeding. [PDF]
Salah QM +4 more
europepmc +1 more source
Severe elbow arthropathy in a patient with congenital afibrinogenemia: a case report [PDF]
Brand, B, Jost, B, Reidy, K
core +1 more source

