ROA AC; MAXIT C; DENZLER I; ONNA N; KLEPPE S; ASTEGGIANO CG

Clinical Utility of Congenital Disorder of Glycosylation Gene Panel in Patient with Refractory Epilepsy

5th Latin American Congress of Glycobiology and 2nd. Meeting of the Glycoscience in Thematic Network

Lugar: Ciudad de Mexico; Año: 2019;

PAPAZOGLU GM (1,2); VEGA A (3); PEREYRA M (4); SPÉCOLA N (5); DODELSON DE KREMER R (1); PÉREZ B (3); ASTEGGIANO CG (1,2,6)

- GENETIC VARIANTS IDENTIFIED BY EXOMIC ANALYSIS IN CONGENITAL DISORDERS OF GLYCOSYLATION

?5th World Conference on Congenital Disorders of Glycosylation (CDG) for Families and Professionals: CDG Therapies are a reality?

Lugar: Lisboa; Año: 2019;

PAPAZOGLU G.M. ; SALINAS R.; PEREYRA M.I.; CUBILLA M.; MARTINEZ DUNCKER I.; ASTEGGIANO C.G.

Study of Expression of Specific Glycans on Platelet Membrane in Congenital Disroders of Glycosylation Patients.

5th Latin American Congress of Glycobiology and 2nd. Meeting of the Glycoscience in Thematic Network

Lugar: Ciudad de Mexico ; Año: 2019;

ASTEGGIANO CG. ; CAINO S; CUBILLA M.; ROMINA A; PAPAZOGLU M.; OBREGÓN MG.; LAPUNZINA P.; FANO V.; HEATH E. K

Genetic Analysis of Multiple Osteochondromatosis in a Cohort of Argentinean Patients

5th Latin American Congress of Glycobiology and 2nd. Meeting of the Glycoscience in Thematic Network

Lugar: Cuidad de Mexico; Año: 2019;

ASTEGGIANO CG

Muscle Deficit Associated with Congenital Disorders of Glycosylation.

5th Latin American Congress of Glycobiology and 2nd. Meeting of the Glycoscience in Thematic Network

Lugar: Cuidad de Mexico; Año: 2019;

PAPAZOGLU G.M., SALINAS R., PEREYRA M.I., CUBILLA M., MARTINEZ DUNCKER I., ASTEGGIANO C.G.

Study of Expression of Specific Glycans on Platelet Membrane in Congenital Disorders of Glycosylation Patients

5th Latin American Congress of Glycobiology and 2nd. Meeting of the Glycoscience in Thematic Network

Lugar: Ciudad Autonoma Mexico; Año: 2019;

ROA AC, MAXIT C, DENZLER I, ONNA N,KLEPPE S; ASTEGGIANO CG

Clinical Utility of Congenital Disorder of Glycosylation Gene Panel in Patient with Refractory Epilepsy

XII Latin American Congress of Inborn Errors of Metabolism and Newborn Screening,

Lugar: Buenos Aires, Argentina; Año: 2019;

VALDEZ RM, LOTERSZTEIN V; ASTEGGIANO CG

NOVEL EXT2 PATHOGENIC MUTATION IN ARGENTINIAN FAMILY WITH HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS

XII Latin American Congress of Inborn Errors of Metabolism and Newborn Screening,

Lugar: Buenos Aires, Argentina; Año: 2019;

PAPAZOGLU GM, DODELSON DE KREMER R; VEGA A, PÉREZ B; PEREYRA M , SPÉCOLA N; ASTEGGIANO CG

- GENETIC VARIANTS IDENTIFIED BY EXOMIC ANALYSIS IN CONGENITAL DISORDERS OF GLYCOSYLATION

XII Latin American Congress of Inborn Errors of Metabolism and Newborn Screening,

Lugar: Buenos Aires, Argentina; Año: 2019;

PAPAZOGLU M; M.B. BISTUE´ MILLON; PERALTA MARÍA FERNANDA; AZAR NYDIA BEATRIZ; SPECOLA NORMA; GUELBERT N.; SULDRUP NIELS; PEREYRA MARCELA; ASTEGGIANO CG; AZAR NB; OLLER DE RAMIREZ AM; GUELBERT N; GINER-AYALA A; DELGADO A; BECERRA A; MALAMUD H; GHIO A; DODELSON DE KREMER R.; ASTEGGIANO C.G

Congenital Disorders of Glycosylation: clinical, biochemical and genetics studies and potential pitfalsl in the screening

Annual Symposium SSIEM

Año: 2018;

ASTEGGIANO CARLA G; MAGALÍ PAPAZOGLU; BISTUÉ MILLÓN M.B; PERALTA MF, AZAR NYDIA BEATRIZ; SPÉCOLA NORMA; GUELBERT NORBERTO BERNARDO; SULDRUP NIELS; PEREYRA MARCELA; DODELSON DE KREMER, RAQUEL(

A 10-Year Research Program On Congenital Disorders of N-Glycosylation In Argentina

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (ICIEM)

Lugar: Rio de Janeiro; Año: 2017;

ASTEGGIANO CARLA G

DESORDENES CONGÉNITOS DE LA GLICOSILACIÓN

GlycoAr

Lugar: Villa General Belgrano; Año: 2016;

PAPAZOGLU MAGALÍ; NG BOBBY; PEREYRA MARCELA; AMOROSI CYNTIA; DODELSON DE KREMER RAQUEL; FREEZE HUDSON; ASTEGGIANO CARLA

A new missense mutation in two ALG2-CDG Argentinean siblings

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism.

Año: 2016;

AMOROSI C; BISTUÉ MILLÓN M.B; PAPAZOGLU M; BISTUÉ MILLÓN MB.; SIRAVEGNA M, SPÉCOLA N., CHACÓN S., DODELSON DE KREMER R., ELSO G.; ASTEGGIANO CG.; ELSO-BERBERIAN G; ASTEGGIANO C.G

New insights on glycosylation and Na+/Ca2+ exchangers in human cells

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. ISSN 0141-8955

Año: 2016;

ASTEGGIANO, C.G.(1,2,3); PAPAZOGLU, G.M.(1,2); DODELSON DE KREMER; R.; NG, B. G; FREEZE, H.H.

CLINICAL AND GENETIC ASPECTS IN CDG

3ER CONGRESO LATINOAMERICANO DE GLICOBIOLOGIA

Lugar: Guanajuato; Año: 2015;

ASTEGGIANO, CARLA

Avances en la investigación y el diagnóstico de los Desórdenes Congénitos de la Glicosilación (CDG) en Latinoamérica.

Jornadas sobre detección y diagnóstico de enfermedades metabólicas congénitas

Lugar: Bahía Blanca; Año: 2015;

ASTEGGIANO, CARLA; PAPAZOGLY M.; SULDRUP N.; DODELSON DE KREMER R.

CLINICAL AND GENETIC ASPECTS IN CONGENITAL DISORDERS OF GLYCOSYLATION (CDG)

X Congreso Latinoamericano de Errores Innatos del Metabolismo y Pezquisa Neonatal

Lugar: Santiago de Chile; Año: 2015;

ASTEGGIANO, CARLA; BISTUÉ MILLÓN, MB; SIRAVEGNA M; ELSO DE BERBERIAN G.

Expression and glycosylation status of Na/Ca exchangers in normal and CDG patient platelets

l Reunión Anual Sociedad Argentina de Investigación en Bioquímica y Biología Celular (SAIB)

Lugar: Rosario; Año: 2014;

ASTEGGIANO CARLA G

CONGENITAL DISORDERS OF GLYCOSYLATION IN ARGENTINA

?The 1st World Conference on Congenital Disorders of Glycosylation for Families and Professionals : a booming story of sugar trees?

Lugar: Barcelona; Año: 2013;

BISTUÉ MILLÓN MB.; SIRAVEGNA M, SPÉCOLA N., CHACÓN S., DODELSON DE KREMER R., ELSO G.; ASTEGGIANO CG.

NCX1 and Ca+2 exchangers in human platelets? A putative role in the thombo-hemorrhagic events associated with Congenital Disorder of Glycosylation

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism

Año: 2013;

EG MARTINEZ DOMENECH; MA DELGADO; P SARRIÓN; G MATTHIJS; N GUELBERT; R DODELSON DE KREMER; S BALCELLS; D GRINBERG; CARLA G ASTEGGIANO

SKELETAL DYSPLASIA DUE TO CONGENITAL DISORDERS OF GLYCOSYLATION

12th International Congress of Inborn Errors of Metabolism

Lugar: Barcelona; Año: 2013;

M. A. DELGADO, G. MARTINEZ-DOMENECH, P. SARRION, R. URREIZTI, L. ZECCHINI, H. ROBLEDO, F. SEGURA, S. BALCELLS, D. GRINBERG, R. DODELSON DE KREMER, C. G. ASTEGGIANO

Multiple Osteochondromatosis (EXT1-EXT2-CDG): Clinical, Biochemical, and Molecular Studies in a Cohort of 33 Latin American Patients

IX Latin American Congress of Inborn Errors of Metabolism and Newborn Screening

Lugar: Medellín; Año: 2013;

ASTEGGIANO; MB BISTUÉ MILLÓN; MA DELGADO; P SARRIÓN; G MARTÍNEZ DOMENECH; N GUELBERT; S BALCELLS; D GRINBERG; R DODELSON DE KREMER.

A BROAD SPECTRUM OF CONGENITAL DISORDER OF GLYCOSYLATION SUBTYPES IN ARGENTINA

Annual Symposium of the Society for the Study of inborn errors of Metabolism

Lugar: Birmingham; Año: 2012;

BISTUÉ MILLÓN, MARÍA BEATRIZ(1); ELSO ? BERBERIAN, GRACIELA(2,4); ASTEGGIANO, CARLA GABRIELA(1,3,4)

Na+/ Ca2+ and Na+/Ca2+-K+ exchangers: biochemical and functional characterization in human platelets

SAIB 48th Annual Meeting Argentine Society for Biochemistry and Molecular Biology XLVII Reunión Anual Sociedad Argentina de Investigación en Bioquímica y Biología Molecular

Lugar: Mendoza; Año: 2012;

ASTEGGIANO CG. 1,2, BISTUÉ MILLÓN MB.1; DELGADO MA.1; MARTÍNEZ DOMENECH EG.1; DODELSON DE KREMER R

A broad spectrum of Congenital Disorder of glycosylation subtypes in Argentina

SAIB 48th Annual Meeting Argentine Society for Biochemistry and Molecular Biology XLVII Reunión Anual Sociedad Argentina de Investigación en Bioquímica y Biología Molecular

Lugar: Mendoza; Año: 2012;

DELGADO MA1; MARTINEZ-DOMENECH G1, DODELSON DE KREMER R1; ASTEGGIANO CG 2

Molecular studies in EXT1 and EXT2 genes in multiple osteochondromatosis patients (EXT1/EXT2-CDG)

SAIB 48th Annual Meeting Argentine Society for Biochemistry and Molecular Biology XLVII Reunión Anual Sociedad Argentina de Investigación en Bioquímica y Biología Molecular

Lugar: Mendoza; Año: 2012;

BISTUÉ MILLÓN MB.1; DELGADO MA.1; STURIALE L.2; MATTHIJS G. 3; JAEKEN J.4; DODELSON DE KREMER R.1; ASTEGGIANO CG. 1,5,6.

ARGENTINEAN PROGRAM FOR THE DIAGNOSIS AND RESEARCH OF CONGENITAL DISORDER OF GLYCOSYLATION: An experience which is growing up.

4th International Meeting on Congenital Disorders of Glycosylation

Lugar: Leuven; Año: 2011;

ASTEGGIANO, CARLA

Heparan sulphate proteoglycans and congenital disorder of o-glycosylation: biochemical and molecular bases of multiple hereditary exostoses.

1er Congreso Latinoamericano de Glicobiología.

Lugar: Oaxaca; Año: 2011;

BISTUÉ MILLÓN MB.(1); DELGADO MA.(1) ;STURIALE L.(2) ;MATTHIJS G.(3) ;JAEKEN J.(4); DODELSON DE KREMER R.(1); ASTEGGIANO CG.(1,5,6).

ARGENTINEAN PROGRAM FOR THE DIAGNOSIS AND RESEARCH OF CONGENITAL DISORDER OF GLYCOSYLATION

VIII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquiza Neonatal

Lugar: Cusco; Año: 2011;

ASTEGGIANO, CARLA

Desórdenes Congénitos de la Glicosilación

VIII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquiza Neonatal

Lugar: Cusco; Año: 2011;

BISTUÉ MILLÓN, MB; ELSO-BERBERIAN G; ASTEGGIANO, CG

?NCX1 and NCKX1 exchangers: expression and glycosylation status in human platelets and megakaryocytes cell lines?

?NCX1 and NCKX1 exchangers: expression and glycosylation status in human platelets and megakaryocytes cell lines?

Año: 2011;

BISTUÉ MILLÓN MB.1; DELGADO MA.1; STURIALE L.2; MATTHIJS G. 3; JAEKEN J.4; DODELSON DE KREMER R.1; ASTEGGIANO CG. 1,5,6

ARGENTINEAN PROGRAM FOR THE DIAGNOSIS AND RESEARCH OF CONGENITAL DISORDER OF GLYCOSYLATION: An experience which is growing up.

“Congenital Disorders of Glycosylation (CDG) 1st Latin American Symposium”

Lugar: Villa Carlos Paz; Año: 2010;

DELGADO, MA., SARRIÓN, P., AZAR, N., ZECCHINI L., BISTUÉ MILLÓN, MB., CHIESA M., ROBLEDO, H.; DODELSON DE KREMER, R.; BALLCELS, S; GRINBERG, D.; ASTEGGIANO, CG.

“Congenital Disorder of O-Glycosylation in Multiple Hereditary Exostoses: First Study in a Cohort of Latin American Patients”

Annual Symposium of the Society for the Study of inborn errors of Metabolism

Lugar: Estambul; Año: 2010;

DELGADO, MA., AZAR, N., ZECCHINI L., BECERRA, A., ROBLEDO, H.; BISTUÉ MILLÓN, M.B.; SARRIÓN, P.; DODELSON DE KREMER, R.; BALLCELS, S; GRINBERG, D.; ASTEGGIANO, CG.

“Multiple Hereditary Exostoses due to o-glycosylation defects: first clinical and molecular studies in argentinean patients”.

VII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Lugar: Cancún, México; Año: 2009;

DELGADO, M.A., AZAR, N., ZECCHINI L., BECERRA, A., BISTUÉ MILLÓN, M.B.; CHIESA, M.; ROBLEDO, H.; SARRIÓN, P.; DODELSON DE KREMER, R.; BALLCELS, S.; GRINBERG, D.; ASTEGGIANO, CG

“Multiple Hereditary Exostoses due to O-glycosylation defects: First clinical and molecular studies in Argentinean patients”.

Third International Multiple Hereditary Exostoses Research Conference.

Lugar: Boston, USA; Año: 2009;

BISTUÉ MILLÓN MB.; DELGADO MA; AZAR NB; GUELBERT N; DI RIENZO, M.; MATTHIJS G.; JAEKEN J.; DODELSON DE KREMER; ASTEGGIANO CG

“Clinical, biochemical and molecular studies of two CDG-Ix patients in the context of the first program for the Congenital Disorders of Glycosylation studies in Argentina”

VII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Lugar: Cancún, México; Año: 2009;

M. B. BISTUÉ MILLÓN; M. A. DELGADO; N. B. AZAR; M.; N. GUELBERT; L. STURIALE; G. MATTHIJS; J. JAEKEN; C. G. ASTEGGIANO.

Clinical, biochemical and molecular studies of two siblings with CDG-Ix in the context of the first program for Congenital Disorders of Glycosylation studies in Argentina

11th International Congress of Inborn Errors of Metabolism, San Diego August 29th – September, 2009, USA

Lugar: San Diego, USA; Año: 2009;

ASTEGGIANO, CG.; DODELSON DE KREMER, R.

“Congenital Disorders of Glycosylation: “state of the art”

VII Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Lugar: Cancún, México; Año: 2009;

M. B. BISTUÉ MILLÓN; M. A. DELGADO; N. B. AZAR; M. DI RIENZO; N. GUELBERT; P. BRIONES; G. MATTHIJS; J. JAEKEN; C. G. ASTEGGIANO; R. DODELSON DE KREMER.

Bases clínicas, bioquímicas y moleculares de los Desórdenes Congénitos de la Glicosilación proteica: Avances metodológicos para la investigación y el diagnóstico de este nuevo grupo de patologías metabólicas hereditarias en nuestro país

Reunión Científica Anual de la Sociedad Argentina de Investigación Clínica (SAIC)

Lugar: Mar del Plata, Buenos Aires, Argentina; Año: 2008;

ASTEGGIANO CG*1; BOHL L.1; DELGADO A1; AZAR NB1; OLLER DE RAMIREZ AM1; GUELBERT N1; MALAMUD H1; GHIO A1; BRIONES P.2; ARTUCH R3; VILASECA A.3; MATTHIJS G.4; JAEKEN J.5; DODELSON DE KREMER R1.

CONGENITAL DISORDERS OF GLYCOSYLATION: First clinical, biochemical, enzymatic and molecular investigations in Argentina

The 3rd International Meeting on Congenital Disorders of Glycosylation and related disorders

Lugar: Paris, Oct 18-19; Año: 2007;

ASTEGGIANO C, DELGADO A, AZAR NB, OLLER DE RAMIREZ AM, GUELBERT N, MALAMUD H, GHIO A, BRIONES P, ARTUCH R, VILASECA, MATTHIJS G, JAEKEN J, DODELSON KREMER R.

Desórdenes Congénitos de la Glicosilación: Primera investigación clínica, Bioquímica, Enzimática y Molecular en Argentina.

VI Congreso Latinoamericano de Errores Innatos del Metabolismo y Pesquisa Neonatal

Lugar: Punta del Este-Uruguay, 16 al 20 de Septiembre; Año: 2007;

ASTEGGIANO CG; AZAR NB; OLLER DE RAMIREZ AM; GUELBERT N; GINER-AYALA A; DELGADO A; BECERRA A; MALAMUD H; GHIO A; DODELSON DE KREMER R.

Desórdenes Congénitos de la N-Glicosilación: Un nuevo capítulo de la genética médica. Primer proyecto Argentino de investigación clínica

35 Congreso Argentino de Genética

Lugar: San Luis, Capital, Argentina; Año: 2006;

C ASTEGGIANO, R URREIZTI , M COZAR, MA VILASECA, D GRINBERG, S BALCELLS

Estudio in vitro de 14 mutaciones de la CBS encontradas en pacientes homocistinúricos

AECOM 6to Congreso Nacional de Errores Congénitos del Metabolismo

Lugar: Palma de Mallorca, 5 al 7 de Octubre 2005, España.; Año: 2005;

URREIZTI, R; ASTEGGIANO,C; COZAR, M; FRANK,N; VILASECA, M.A; GRINBERG, D; BALCELLS, S.

FUNCIONAL CHARACTERIZATION OF 14 CBS MUTATIONS FOUND IN HOMOCYSTINURIC PATIENTS.

Fourth International Conference on homocysteine Metabolism

Lugar: Basel, Switzerland; Año: 2005;