Carla Asteggiano - Concepedia

Author

Carla Asteggiano

Also Known As

Asteggiano, Carla G., C. G. Asteggiano, C.G. Asteggiano, CARLA ASTEGGIANO, Carla Asteggiano, Carla G. Asteggiano, Carla Gabriela Asteggiano

Publications

650

Citations

H-Index

Concepts

All Affiliations

Universidad Nacional de Córdoba Consejo Nacional de Investigaciones Científicas y Técnicas Universitat de Barcelona Hospital de Niños de la Santísima Trinidad Universidad Católica de Córdoba

About

Carla Asteggiano is an author at Universidad Nacional de Córdoba specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	7	7	202
2	Engineering	1	1	22
3	Health Sciences	1	1	87
4	Public Health	1	1	10
5	Biology	1	1	16

Carla Asteggiano

Publications

418

Citations

H-Index

Page 1

	Year	Citations
MAN1B1 Deficiency: An Unexpected CDG-II Daisy Rymen, Romain Péanne, María Beatriz Bistué Millón, PLoS Genetics Metabolic DisorderGeneticsGlycobiologyPathologyMolecular Genetics	2013	87
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas Patricia Sarrión, Anna Sangorrin, Roser Urreizti, Scientific Reports	2013	50
Encephalopathy caused by novel mutations in the CMP‐sialic acid transporter, <i>SLC35A1</i> Bobby G. Ng, Carla Asteggiano, Martin Kircher, American Journal of Medical Genetics Part A	2017	36
Predominant and novel de novo variants in 29 individuals with <scp><i>ALG13</i></scp> deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev, Journal of Inherited Metabolic Disease	2020	36
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America Roser Urreizti, Carla Asteggiano, Marta Bermúdez, Journal of Human Genetics South AmericaMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology	2006	32
Phosphatidyl inositol‐4,5‐bisphosphate bound to bovine cardiac Na<sup>+</sup>/Ca<sup>2+</sup> exchanger displays a MgATP regulation similar to that of the exchange fluxes Carla Asteggiano, Graciela Berberián, Luis Beaugé European Journal of Biochemistry	2001	32
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls Carla Asteggiano, Magali Papazoglu, María Beatriz Bistué Millón, Pediatric Research GlycoproteomicsGlycosylationInherited Metabolic DiseaseGlycobiologyPediatrics	2018	23
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations Roser Urreizti, Carla Asteggiano, Mónica Cozar, Human Mutation E. ColiEngineeringGeneticsMolecular BiologyPathology	2006	22
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients Mónica Cozar, Roser Urreizti, Laura Vilarinho, Human Mutation	2011	21
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG María Andrea Delgado, G. Martinez-Domenech, Patricia Sarrión, Scientific Reports	2014	18

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