María del Mar O’Callaghan

Author

Centre for Biomedical Network Research on Rare Diseases

Also Known As

M. O'Callaghan, Maria O'Callaghan, Maria del Mar O'Callaghan, Maria del Mar O’Callaghan, Maria del O’Callaghan, Maria del Mar O’Callaghan, María O’Callaghan, María del Mar O’Callaghan

Publications

919

Citations

H-Index

Concepts

All Affiliations

Centre for Biomedical Network Research on Rare Diseases Hospital Sant Joan de Déu Barcelona Instituto de Salud Carlos III Universidad de Zaragoza University College London

About

María del Mar O’Callaghan is an author at Centre for Biomedical Network Research on Rare Diseases specializing in medicine, natural sciences, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	486
2	Natural Sciences	3	3	361
3	Biology	1	1	24
4	Cell Biology	1	1	31
5	Immunology	1	1	31

María del Mar O’Callaghan

Publications

907

Citations

H-Index

Page 1

	Year	Citations
Selective Elimination of Mitochondrial Mutations in the Germline by Genome Editing Pradeep Reddy, Alejandro Ocampo, Keiichiro Suzuki, Cell Mitochondrial FunctionNatural SciencesGeneticsMitochondrial MutationsDna Replication	2015	283
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome Sofia Duarte, Judith Armstrong, Ana Roche, PLoS ONE	2013	90
Genistein supplementation in patients affected by Sanfilippo disease Verónica Delgadillo, María del Mar O’Callaghan, Rafael Artuch, Journal of Inherited Metabolic Disease	2011	74
Natural history of Sanfilippo syndrome in Spain Verónica Delgadillo, María del Mar O’Callaghan, Laura Gort, Orphanet Journal of Rare Diseases	2013	68
Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features Mercedes Serrano, María Teresa García‐Silva, Elena Martín‐Hernández, Mitochondrion Kearns-sayre SyndromeMendelian DisorderNeurological DisorderCerebrospinal FluidInherited Metabolic Disease	2010	59
Clinical presentation and proteomic signature of patients with <i>TANGO2</i> mutations Nadja Mingirulli, Angela Pyle, Denisa Hathazi, Journal of Inherited Metabolic Disease	2019	55
Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes Raquel Montero, Manuela Grazina, Ester López‐Gallardo, Mitochondrion Mitochondrial FunctionGenetic DisorderNatural SciencesGeneticsDna Replication	2013	54
Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease Marcio Andrade‐Campos, Pilar Alfonso, Pilar Irún, Orphanet Journal of Rare Diseases	2017	44
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency Inês Vaz Matos, Esperanza Castejón, Silvia Meavilla, Molecular Genetics and Metabolism Translational MedicineHydroxocobalamin Dose EscalationCobalamin C DeficiencyMedicineBiochemical Outcome	2013	35
Plasma coenzyme Q10 status is impaired in selected genetic conditions Raquel Montero, Dèlia Yubero, Maria Cristina de Oliveira Salgado, Scientific Reports	2019	33

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