A. Ruiz‐Saez

发表

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

R. Kaufman, D. Ginsburg, Bin Zhang, 2006, Blood.

A novel fibrinogen mutation: FGA g. 3057 C > T (p. Arg104 > Cys) impairs fibrinogen secretion

S. Brennan, A. Casini, A. Ruiz-Sáez, 2017, BMC Hematology.

A novel fibrinogen mutation : FGA g . 3057 C > T ( p . Arg 104 > Cys ) impairs fibrinogen secretion MARCHI

S. Brennan, A. Casini, A. Ruiz-Sáez, 2018 .

Fibrinogen Guarenas, an abnormal fibrinogen with an Aα-chain truncation due to a nonsense mutation at Aα 467 Glu (GAA) → stop (TAA)

J. Soria, J. Weisel, A. Ruiz-Sáez, 2006 .

Musculoskeletal evaluation in severe haemophilia A patients from Latin America

M. Ozelo, P. Villaça, M. Solano, 2013, Haemophilia : the official journal of the World Federation of Hemophilia.

Diagnosis and treatment of congenital hemophilia with inhibitors a Latin American perspective.

M. Ozelo, P. Villaça, M. Solano, 2008, Medicina.

Elective surgery in patients with congenital coagulopathies and inhibitors: experience of the National Haemophilia Centre of Venezuela

A. Ruiz-Sáez, A. Boadas, N. D. de Bosch, 2011, Haemophilia : the official journal of the World Federation of Hemophilia.

Occurrence of Thrombosis in Rare Bleeding Disorders

A. Ruiz-Sáez, A. Ruiz‐Saez, 2013, Seminars in Thrombosis & Hemostasis.

Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene

A. Batorova, H. Pollmann, A. Ruiz-Sáez, 2006, Haemophilia : the official journal of the World Federation of Hemophilia.

Inhibition of Thrombin Generation in Plasma by Fibrin Formation (Antithrombin I)

A. Ruiz-Sáez, N. D. de Bosch, M. Mosesson, 2002, Thrombosis and Haemostasis.

Thrombosis in rare bleeding disorders

A. Ruiz-Sáez, A. Ruiz‐Saez, 2012, Hematology.

Factor VII deficiency: clinical manifestation of 717 subjects from Europe and Latin America with mutations in the factor 7 gene

J. Astermark, S. Schulman, A. Batorova, 2009, Haemophilia : the official journal of the World Federation of Hemophilia.

A Nonsense Mutation in FGA g.3807C→T (p.R159X) Causes Afibrinogenaemia in the Homozygous Form

A. Ruiz-Sáez, M. Meyer, R. Marchi Cappelletti, 2009, Acta Haematologica.

Substitution of Gly-548 to Ala in the Substrate Binding Pocket of Prothrombin Perijá Leads to the Loss of Thrombin Proteolytic Activity

A. Ruiz-Sáez, N. D. de Bosch, H. Umeyama, 2002, Thrombosis and Haemostasis.

Prothrombin Carora: hypoprothrombinaemia caused by substitution of Tyr‐44 by Cys

S. J. Degen, A. Ruiz-Sáez, W. Y. Sun, 1999, British journal of haematology.

Prothrombin Perija: a new congenital dysprothrombinemia in an Indian family.

A. Ruiz-Sáez, J. Luengo, A. Rodríguez, 1986, Thrombosis research.

Genotype–phenotype correlation in MYH9‐related thrombocytopenia

M. Kelley, F. Dong, S. Langdon, 2005, British journal of haematology.

Comprehensive care in hemophilia

A. Ruiz-Sáez, A. Ruiz‐Saez, 2012, Hematology.

Intra‐articular hyaluronic acid in the treatment of haemophilic chronic arthropathy

A. Ruiz-Sáez, A. Boadas, N. D. de Bosch, 2002, Haemophilia : the official journal of the World Federation of Hemophilia.

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

R. Kaufman, D. Ginsburg, S. Pipe, 2003, Nature Genetics.

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families.

R. Kaufman, C. Négrier, D. Ginsburg, 1999, Blood.

and VIII Deficiency Families ERGIC-53 Gene Structure and Mutation Analysis in 19 Combined Factors V

R. Kaufman, C. Négrier, H. Saito, 2013 .

Laboratory issues in bleeding disorders

F. Rodeghiero, A. Ruiz-Sáez, C. Hayward, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

A Nonsense Mutation in FGA g.3807C→T (p.R159X) Causes Afibrinogenaemia in the Homozygous Form

M. Meyer, Y. Tersek, A. Ruiz‐Saez, 2009, Acta Haematologica.

Episodic replacement of clotting factor concentrates does not prevent bleeding or musculoskeletal damage – the MUSFIH study

A. Chuansumrit, M. Jazebi, J. Carneiro, 2017, Haemophilia : the official journal of the World Federation of Hemophilia.

Fibrinogen Maracaibo: Hypo-Dysfibrinogenemia Caused by a Heterozygous Mutation in the Gen that Encodes for the Fibrinogen AÃŽÂ± Chain (G.1194G>A: P.Gly13>Glu) with Diminished Thrombin Generation

A. Ruiz-Sáez, R. Marchi, H. Rojas, 2014 .

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

R. Kaufman, D. Ginsburg, Bin Zhang, 2006, Blood.

Severe high-molecular-weight kininogen deficiency: clinical characteristics, deficiency-causing KNG1 variants, and estimated prevalence.

B. Lämmle, K. Lackner, H. Rossmann, 2022, Journal of thrombosis and haemostasis : JTH.

A novel mutation in the FGB: c.1105C>T turns the codon for amino acid Bβ Q339 into a stop codon causing hypofibrinogenemia.

S. Brennan, A. Ruiz-Sáez, R. Marchi, 2013, Blood cells, molecules & diseases.