A. Ruiz-Sáez

发表

Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations

S. Albánez, A. Ruiz-Sáez, A. Boadas, 2011, Haemophilia : the official journal of the World Federation of Hemophilia.

Pharmacokinetics, thrombogenicity and safety of a double viral inactivated factor IX concentrate compared with a prothrombin complex concentrate

F. Minichilli, A. Ruiz-Sáez, A. Boadas, 2005, Haemophilia : the official journal of the World Federation of Hemophilia.

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

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

Occurrence of Thrombosis in Rare Bleeding Disorders

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

Thrombosis in rare bleeding disorders

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

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 .

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

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

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

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

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.

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.

Platelet dysfunction-eosinophilia syndrome in parasitized Venezuelan children.

A. Arenas-Pinto, A. Ruiz-Sáez, G. Certad, 2005, The American journal of tropical medicine and hygiene.

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 .

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.

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.

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.

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.

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 .

Fibrinogen Guarenas I: partial characterization of a new dysfibrinogenemia with an altered rate of fibrinopeptide release and an impaired polymerization.

A. Ruiz-Sáez, R. Marchi, C. Arocha-Piñango, 1995, Thrombosis research.

Genotype–phenotype correlation in MYH9‐related thrombocytopenia

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

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.

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.

39 radiosynoviorthesis in Haemophilia : How Safe ?

A. Ruiz-Sáez, N. B. Bosch, F. Fernández-Palazzi, 2015 .

Radiosynoviorthesis in haemophilia: how safe?

A. Ruiz-Sáez, N. D. de Bosch, F. Fernández-Palazzi, 2010, Srpski arhiv za celokupno lekarstvo.

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

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

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.

Favourable impact of regular swimming in young people with haemophilia: experience derived from ‘Desafio del Caribe’ project

A. Ruiz-Sáez, A. Boadas, S. Gadea, 2015, Haemophilia.

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

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

Haemophilia care in Latin America: Assessment and perspectives

M. Ozelo, M. Solano, A. Linares, 2018, Haemophilia : the official journal of the World Federation of Hemophilia.

Comprehensive care in hemophilia

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

Replacement therapy for bleeding episodes in factor VII deficiency

G. Mariani, G. Auerswald, G. Di Minno, 2012, Thrombosis and Haemostasis.

Laboratory issues in bleeding disorders

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

Prevalence and diagnosis of haemorrhagic disorders and evaluation of effectiveness of WFH laboratory training workshops in Latin America

F. Rodeghiero, A. Ruiz-Sáez, C. Hayward, 2008 .

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.

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

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

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

R. Kaufman, D. Ginsburg, F. Peyvandi, 2013 .

Characterization of a Mutation in the 5′ Flanking Region and a Novel IVS7 Splice site Mutation in a Patient with Severe FVII Deficiency

R. Grempler, A. Ruiz-Sáez, K. Wulff, 2007 .

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.